CHM (P24386) variants and mutations
CHM (also known as P24386) is a human protein-coding gene encoding a rab proteins geranylgeranyltransferase component A 1 protein. It enables prenylation of Rab GTPases by delivering Rab proteins to geranylgeranyl transferase, supporting membrane trafficking in retinal and other cells. Loss-of-function variants cause X-linked choroideremia with progressive degeneration of photoreceptors, retinal pigment epithelium, and choroid. This analysis covers 941 CHM variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes choroideremia, Retinal dystrophy, and retinitis pigmentosa. Example CHM variants include M1I, M1T, and M1V.
Variant analysis overview
- Gene: CHM
- Protein: P24386
- UniProt accession: P24386
- Organism: Homo sapiens
- Variants analyzed: 941
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 698 unspecified-consequence records; 88 synonymous variants; 135 missense variants; 1 in-frame insertions; 4 stop-gained variants; 11 frameshift variants; 3 splice-region variants; 2 substitution
- Prediction scores: 812 variants have prediction scores (86% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: choroideremia, Retinal dystrophy, retinitis pigmentosa, eye disorder, night blindness, Chorioretinal atrophy, Abnormality of the eye, hereditary disease, cancer, Progressive cone dystrophy, Cone rod dystrophy, Leber congenital amaurosis.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable CHM variants
Examples include M1I, M1T, M1V, A2E, A2G, A2V, D3G, D3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1603288875, ClinGen CA413788726, ClinVar RCV000787564, MetaLR 0.86, MetaSVM 0.87, Uncertain significance, Inborn genetic diseases; not provided
- M1T (p.Met1Thr), rs2147819159, ClinGen CA413788728, ClinVar RCV001378486, MetaLR 0.86, MetaSVM 0.92, Likely pathogenic, not provided
- M1V (p.Met1Val), rs1057516265, ClinGen CA16042050, ClinVar RCV000412301, MetaLR 0.86, MetaSVM 0.92, Likely pathogenic, Choroideremia
- A2E (p.Ala2Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A2G (p.Ala2Gly), TOPMed rs1185313651, gnomAD rs1185313651, REVEL 0.41, MetaLR 0.82, Uncertain significance
- A2V (p.Ala2Val), rs1185313651, ClinGen CA413788718, ClinVar RCV001242934, ClinVar RCV001829006, REVEL 0.41, MetaLR 0.81, Uncertain significance, not provided
- D3G (p.Asp3Gly), rs149255670, ClinGen CA10465693, ClinVar RCV000874935, ClinVar RCV001277509, REVEL 0.22, MetaLR 0.64, Benign, not provided
- D3N (p.Asp3Asn), rs1934697086, ClinGen CA413788717, cosmic curated COSV62565, ClinVar RCV002605549, REVEL 0.31, MetaLR 0.60, Uncertain significance, not provided
- T4A (p.Thr4Ala), rs746300399, ClinGen CA10465692, cosmic curated COSV62565, ClinVar RCV001277508, REVEL 0.07, MetaLR 0.10, Likely benign, not provided
- T4I (p.Thr4Ile), rs370525929, ClinGen CA413788707, ClinVar RCV002932684, ClinVar RCV005608811, AlphaMissense 0.06, MetaLR 0.05, Uncertain significance, not provided
- T4S (p.Thr4Ser), ESP rs370525929, ExAC rs370525929, TOPMed rs370525929, gnomAD rs370525929, REVEL 0.11, AlphaMissense 0.06
- P6H (p.Pro6His), ExAC rs201252021, TOPMed rs201252021, gnomAD rs201252021, REVEL 0.43, MetaLR 0.40, Uncertain significance, Choroideremia
- P6L (p.Pro6Leu), rs201252021, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, ExAC rs201252021, REVEL 0.42, MetaLR 0.38, Variant assessed as somatic; moderate impact.
- P6S (p.Pro6Ser), cosmic curated COSV62566, Ensembl rs1934696473, REVEL 0.36, MetaLR 0.42
- S7* (p.Ser7Ter), rs1357495676, ClinGen CA413788693, ClinVar RCV003560266, AlphaMissense 0.16, MetaLR 0.58, Pathogenic
- S7L (p.Ser7Leu), rs1357495676, ClinGen CA413788691, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62564, REVEL 0.46, AlphaMissense 0.16, Uncertain significance, not provided
- S7R (p.Ser7Arg), rs2521065589, ClinGen CA2580102044, ClinVar RCV002863816, Pathogenic
- E8* (p.Glu8Ter), rs1603288832, ClinGen CA413788688, ClinVar RCV000787004, ClinVar RCV001092880, Pathogenic
- E8G (p.Glu8Gly), gnomAD rs1243229832, REVEL 0.29, MetaLR 0.31
- F9L (p.Phe9Leu), gnomAD rs1278864845, REVEL 0.83, MetaLR 0.75
- F9V (p.Phe9Val), NCI-TCGA TCGA novel, MetaLR 0.70, MetaSVM 0.35, Variant assessed as somatic; moderate impact.
- D10G (p.Asp10Gly), rs138374611, ClinGen CA10465687, ClinVar RCV001277507, ClinVar RCV001519837, REVEL 0.94, MetaLR 0.86, Benign/Likely benign, not provided
- V11E (p.Val11Glu), ExAC rs748322209, gnomAD rs748322209, REVEL 0.87, MetaLR 0.68
- I12V (p.Ile12Val), Ensembl rs1934694873, MetaLR 0.42, MetaSVM -0.22
- V13A (p.Val13Ala), rs755235198, ClinGen CA10465684, ClinVar RCV001908013, ExAC rs755235198, REVEL 0.67, MetaLR 0.50, Uncertain significance, not provided
- V13L (p.Val13Leu), ESP rs150490682, ExAC rs150490682, TOPMed rs150490682, gnomAD rs150490682, REVEL 0.41, MetaLR 0.32
- I14T (p.Ile14Thr), NCI-TCGA TCGA novel, MetaLR 0.53, MetaSVM 0.14, Variant assessed as somatic; moderate impact.
- I14V (p.Ile14Val), Ensembl rs1934694024, REVEL 0.07, MetaLR 0.11
- G15E (p.Gly15Glu), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, Variant assessed as somatic; moderate impact.
- T16M (p.Thr16Met), rs1021746178, ClinGen CA332667705, NCI-TCGA Cosmic COSV6256, ClinVar RCV001907353, REVEL 0.65, MetaLR 0.45, Uncertain significance, not provided
- G17D (p.Gly17Asp), rs2521064591, ClinGen CA2580102043, ClinVar RCV002848399, Pathogenic
- L18F (p.Leu18Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P19S (p.Pro19Ser), NCI-TCGA TCGA novel, Ensembl rs1933881041, MetaLR 0.37, MetaSVM -0.28, Variant assessed as somatic; moderate impact.
- E20A (p.Glu20Ala), TOPMed rs1933880766, REVEL 0.73, MetaLR 0.40, Uncertain significance, Choroideremia
- E20K (p.Glu20Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S21F (p.Ser21Phe), Ensembl rs1933880247, MetaLR 0.84, MetaSVM 0.90
- I22V (p.Ile22Val), TOPMed rs954178323, REVEL 0.23, MetaLR 0.48
- A24G (p.Ala24Gly), gnomAD rs1321285427, REVEL 0.83, MetaLR 0.79
- A26S (p.Ala26Ser), NCI-TCGA TCGA novel, MetaLR 0.78, MetaSVM 0.68, Variant assessed as somatic; moderate impact.
- S28* (p.Ser28Ter), rs2147791162, ClinGen CA413787996, NCI-TCGA Cosmic COSV1007, cosmic curated COSV10071, Likely pathogenic
- S28A (p.Ser28Ala), rs184699911, ClinGen CA10465671, ClinVar RCV003890491, 1000Genomes rs184699911, REVEL 0.30, MetaLR 0.56, Uncertain significance, Retinal dystrophy
- S30C (p.Ser30Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R32Q (p.Arg32Gln), ESP rs371071459, TOPMed rs371071459, gnomAD rs371071459, REVEL 0.22, MetaLR 0.20, Uncertain significance, not provided
- R32W (p.Arg32Trp), rs1169868760, NCI-TCGA Cosmic COSV6256, cosmic curated COSV62566, TOPMed rs1169868760, REVEL 0.63, MetaLR 0.57, Uncertain significance, not provided
- R33S (p.Arg33Ser), rs1933877094, ClinGen CA413787915, ClinVar RCV001308436, TOPMed rs1933877094, AlphaMissense 0.32, MetaLR 0.09, Uncertain significance, not provided
- H36P (p.His36Pro), TOPMed rs1603283368
- H36R (p.His36Arg), TOPMed rs1603283368
- H36Y (p.His36Tyr), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, Variant assessed as somatic; moderate impact.
- V37F (p.Val37Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S39L (p.Ser39Leu), rs772452707, ClinGen CA10465669, cosmic curated COSV10071, ClinVar RCV001075030, REVEL 0.30, MetaLR 0.28, Uncertain significance, Retinal dystrophy; not provided
- S41N (p.Ser41Asn), Ensembl rs1931628939, REVEL 0.12, MetaLR 0.08
- Y42* (p.Tyr42Ter), rs1931628708, ClinGen CA413788374, ClinVar RCV003568023, ClinGen CA413788373, CADD 35.00, Pathogenic
- Y42C (p.Tyr42Cys), NCI-TCGA TCGA novel, REVEL 0.86, MetaLR 0.85, Variant assessed as somatic; moderate impact.
- Y43* (p.Tyr43Ter), rs2520327814, ClinGen CA413788369, ClinVar RCV002309207, ClinGen CA413788368, Pathogenic
- Y43C (p.Tyr43Cys), rs141561651, ClinGen CA10465636, ClinVar RCV002654875, ESP rs141561651, REVEL 0.88, MetaLR 0.89, Uncertain significance, not provided
- Y43F (p.Tyr43Phe), ESP rs141561651, ExAC rs141561651, gnomAD rs141561651, REVEL 0.85, MetaLR 0.87, Uncertain significance
- Y43H (p.Tyr43His), rs780259893, ClinGen CA10465637, ClinVar RCV001240903, ClinVar RCV001277506, REVEL 0.88, MetaLR 0.89, Uncertain significance, not provided
- G44* (p.Gly44Ter), rs886041175, ClinGen CA10603742, ClinVar RCV000259262, ClinVar RCV003909900, CADD 36.00, Pathogenic
- G45* (p.Gly45Ter), rs1057520765, ClinGen CA16608617, ClinVar RCV000435190, Ensembl rs1057520765, CADD 35.00, Pathogenic
- N46S (p.Asn46Ser), rs2147712502, ClinGen CA413788353, ClinVar RCV001974191, Ensembl rs2147712502, REVEL 0.17, MetaLR 0.24, Uncertain significance, not provided
- W47* (p.Trp47Ter), rs1931627432, ClinGen CA413788342, ClinVar RCV001234034, Ensembl rs1931627432, CADD 35.00, Pathogenic
- A48V (p.Ala48Val), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10071, REVEL 0.91, MetaLR 0.85, Variant assessed as somatic; moderate impact.
- S49R (p.Ser49Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S49T (p.Ser49Thr), ExAC rs780831305, gnomAD rs780831305, MetaLR 0.62, MetaSVM 0.24
- S51R (p.Ser51Arg), rs1479916294, ClinGen CA413788312, ClinVar RCV001338280, gnomAD rs1479916294, REVEL 0.62, MetaLR 0.67, Uncertain significance, not provided
- F52I (p.Phe52Ile), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, MetaLR 0.36, MetaSVM -0.56, Variant assessed as somatic; moderate impact.
- S53L (p.Ser53Leu), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62565, MetaLR 0.22, MetaSVM -0.73, Variant assessed as somatic; moderate impact.
- G54* (p.Gly54Ter), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10071, Variant assessed as somatic; high impact.
- L56* (p.Leu56Ter), rs2147712442, ClinGen CA413788283, ClinVar RCV001994466, Ensembl rs2147712442, Pathogenic
- L56F (p.Leu56Phe), Ensembl rs2147712433
- S57C (p.Ser57Cys), ExAC rs751446986, TOPMed rs751446986, gnomAD rs751446986, REVEL 0.34, MetaLR 0.35
- L59V (p.Leu59Val), TOPMed rs1239638778, gnomAD rs1239638778, REVEL 0.22, MetaLR 0.38
- K60N (p.Lys60Asn), NCI-TCGA TCGA novel, REVEL 0.04, MetaLR 0.14, Variant assessed as somatic; moderate impact.
- E61A (p.Glu61Ala), rs372819339, ClinGen CA10465631, ClinVar RCV001343158, ClinVar RCV001831092, REVEL 0.09, MetaLR 0.21, Uncertain significance, not provided
- E61K (p.Glu61Lys), cosmic curated COSV10071, gnomAD rs1276662997
- Q63* (p.Gln63Ter), rs1931625420, ClinGen CA413788234, cosmic curated COSV62565, ClinVar RCV002204557, CADD 37.00, Pathogenic
- Q63H (p.Gln63His), rs2520327443, ClinGen CA413788230, ClinVar RCV003112458, REVEL 0.10, MetaLR 0.12, Uncertain significance, not provided
- Q63K (p.Gln63Lys), Ensembl rs1931625420, REVEL 0.05, MetaLR 0.13, Pathogenic
- Q63P (p.Gln63Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q63R (p.Gln63Arg), gnomAD rs1354740993, REVEL 0.12, MetaLR 0.16
- N65H (p.Asn65His), gnomAD rs1483238162, REVEL 0.04, MetaLR 0.18
- S66C (p.Ser66Cys), TOPMed rs1327471704
- D67N (p.Asp67Asn), Ensembl rs1931442040, REVEL 0.08, MetaLR 0.11
- V69L (p.Val69Leu), rs145088557, ClinGen CA10465621, ClinVar RCV001513388, ClinVar RCV001832692, REVEL 0.06, MetaLR 0.09, Conflicting interpretations, not provided; Inborn genetic diseases
- S72N (p.Ser72Asn), gnomAD rs1931441501, REVEL 0.03, MetaLR 0.06
- P73A (p.Pro73Ala), rs775421659, ClinGen CA413788123, ClinVar RCV003405037, ExAC rs775421659, REVEL 0.13, MetaLR 0.05, Uncertain significance, not specified
- P73L (p.Pro73Leu), rs2147706622, ClinGen CA413788119, ClinVar RCV001912091, Ensembl rs2147706622, REVEL 0.06, MetaLR 0.12, Uncertain significance, not provided
- P73S (p.Pro73Ser), rs775421659, ClinGen CA10465620, ClinVar RCV001416157, ClinVar RCV004980460, REVEL 0.10, MetaLR 0.05, Likely benign, Inborn genetic diseases; not provided
- V74L (p.Val74Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W75* (p.Trp75Ter), rs1931440274, ClinGen CA413788098, ClinVar RCV001386911, ClinVar RCV005002013, AlphaMissense 0.31, MetaLR 0.34, Pathogenic
- W75S (p.Trp75Ser), Ensembl rs1931440274, MetaLR 0.32, MetaSVM -0.37, Pathogenic
- Q76* (p.Gln76Ter), rs1931439989, ClinGen CA413788086, ClinVar RCV001212767, Ensembl rs1931439989, Pathogenic
- D77E (p.Asp77Glu), rs1272374695, gnomAD rs1272374695, REVEL 0.07, MetaLR 0.04, Variant assessed as somatic; moderate impact.
- D77Y (p.Asp77Tyr), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62566, Variant assessed as somatic; moderate impact.
- Q78* (p.Gln78Ter), rs2147706580, ClinGen CA413788054, ClinVar RCV001534620, Ensembl rs2147706580, Pathogenic
- I79L (p.Ile79Leu), TOPMed rs1931439189, gnomAD rs1931439189, REVEL 0.04, MetaLR 0.08, Uncertain significance, not provided
- L80F (p.Leu80Phe), rs55741408, ClinGen CA10465619, ClinVar RCV000865421, ClinVar RCV001274749, REVEL 0.16, MetaLR 0.10, Benign, not provided
- E84A (p.Glu84Ala), rs2520318451, ClinGen CA413787972, ClinVar RCV002806953, REVEL 0.34, MetaLR 0.29, Uncertain significance, not provided
- E84Q (p.Glu84Gln), NCI-TCGA Cosmic COSV6256, cosmic curated COSV62566, MetaLR 0.14, MetaSVM -1.03, Variant assessed as somatic; moderate impact.
- I86V (p.Ile86Val), gnomAD rs1213995486, REVEL 0.13, MetaLR 0.17
- A87D (p.Ala87Asp), NCI-TCGA Cosmic COSV6256, REVEL 0.03, MetaLR 0.11, Variant assessed as somatic; moderate impact.
- L88F (p.Leu88Phe), TOPMed rs1931435943, REVEL 0.21, MetaLR 0.27
- S89C (p.Ser89Cys), rs145707160, ClinGen CA10465618, cosmic curated COSV62566, ClinVar RCV000441588, REVEL 0.10, MetaLR 0.05, Benign, not specified; not provided; Choroideremia
- K91E (p.Lys91Glu), gnomAD rs1931433409, REVEL 0.11, MetaLR 0.13
- D92E (p.Asp92Glu), rs770650130, ExAC rs770650130, gnomAD rs770650130, AlphaMissense 0.20, MetaLR 0.24, Variant assessed as somatic; moderate impact.
- D92N (p.Asp92Asn), Ensembl rs1931433054, REVEL 0.06, MetaLR 0.17
- T94S (p.Thr94Ser), rs1931432079, ClinGen CA413787841, ClinVar RCV001305971, Ensembl rs1931432079, AlphaMissense 0.16, MetaLR 0.17, Uncertain significance, not provided
- I95V (p.Ile95Val), rs2520318193, ClinGen CA413787838, ClinVar RCV003737729, NCI-TCGA Cosmic COSV6256, REVEL 0.23, MetaLR 0.27, Uncertain significance, not provided
- Q96* (p.Gln96Ter), rs1931431411, ClinGen CA413787826, ClinVar RCV001212672, ClinVar RCV003890363, Pathogenic
- E99* (p.Glu99Ter), rs2147706381, ClinGen CA413787804, ClinVar RCV002037672, Ensembl rs2147706381, Pathogenic
- V100L (p.Val100Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C102Y (p.Cys102Tyr), TOPMed rs1931430744, REVEL 0.49, MetaLR 0.52
- Y103* (p.Tyr103Ter), rs897855683, ClinGen CA413787770, ClinVar RCV001917115, TOPMed rs897855683, Pathogenic
- Y103H (p.Tyr103His), rs777754238, ClinGen CA10465614, ClinVar RCV002917470, ExAC rs777754238, REVEL 0.61, MetaLR 0.67, Uncertain significance, not provided
- A104G (p.Ala104Gly), rs11539374, ClinGen CA10465613, ClinVar RCV000591547, ClinVar RCV000875812, REVEL 0.25, AlphaMissense 0.14, Conflicting interpretations, Inborn genetic diseases; not provided; not specified
- A104S (p.Ala104Ser), TOPMed rs1931429516, Uncertain significance, Inborn genetic diseases
- A104V (p.Ala104Val), rs11539374, ClinGen CA413787765, ClinVar RCV002296058, AlphaMissense 0.14, MetaLR 0.31, Uncertain significance, not provided
- Q106* (p.Gln106Ter), rs2520273810, ClinGen CA413787456, ClinVar RCV003064746, Pathogenic
- Q106R (p.Gln106Arg), gnomAD rs1179059439, REVEL 0.08, MetaLR 0.20
- L108F (p.Leu108Phe), rs1457228334, ClinGen CA413787437, ClinVar RCV003044945, gnomAD rs1457228334, REVEL 0.06, MetaLR 0.13, Uncertain significance, not provided
- L108M (p.Leu108Met), NCI-TCGA TCGA novel, SIFT 1.00, Variant assessed as somatic; moderate impact.
- L108V (p.Leu108Val), TOPMed rs988556691, gnomAD rs988556691, REVEL 0.08, MetaLR 0.07
- E113G (p.Glu113Gly), rs779923029, ClinGen CA10465589, ClinVar RCV001463171, ExAC rs779923029, REVEL 0.38, MetaLR 0.30, Likely benign, not provided
- E113K (p.Glu113Lys), rs754548037, ClinGen CA10465590, ClinVar RCV002585065, ClinVar RCV004614361, REVEL 0.29, MetaLR 0.20, Conflicting interpretations, not provided; Inborn genetic diseases
- E114* (p.Glu114Ter), NCI-TCGA Cosmic COSV1007, Variant assessed as somatic; high impact.
- A115T (p.Ala115Thr), Ensembl rs1603264558, SIFT 0.46
- A117T (p.Ala117Thr), TOPMed rs1930446680
- A117V (p.Ala117Val), ExAC rs755819577, gnomAD rs755819577, REVEL 0.12, MetaLR 0.10, Uncertain significance, not provided
- L118V (p.Leu118Val), rs1355442853, ClinGen CA413787374, ClinVar RCV001242636, ClinVar RCV001828998, REVEL 0.08, MetaLR 0.13, Uncertain significance, not provided; Inborn genetic diseases
- Q119* (p.Gln119Ter), rs1930445401, ClinGen CA413787370, ClinVar RCV001073539, Ensembl rs1930445401, Likely pathogenic
- Q119R (p.Gln119Arg), rs1930445185, ClinGen CA413787366, ClinVar RCV002028458, gnomAD rs1930445185, REVEL 0.16, MetaLR 0.21, Uncertain significance, Inborn genetic diseases; not provided
- N121H (p.Asn121His), rs2147676418, ClinGen CA413787352, ClinVar RCV001988249, Ensembl rs2147676418, AlphaMissense 0.09, MetaLR 0.30, Uncertain significance, not provided
- N121I (p.Asn121Ile), TOPMed rs1930444893, MetaLR 0.20, MetaSVM -0.81, Uncertain significance, not provided
- H122D (p.His122Asp), gnomAD rs1311851637, REVEL 0.09, AlphaMissense 0.08
- H122N (p.His122Asn), rs1311851637, ClinGen CA413787346, ClinVar RCV003692150, AlphaMissense 0.08, MetaLR 0.09, Uncertain significance, not provided
- H122R (p.His122Arg), rs765999807, ClinGen CA10465586, ClinVar RCV002835843, ClinVar RCV005099717, REVEL 0.04, MetaLR 0.09, Uncertain significance, not provided; Inborn genetic diseases
- H122Y (p.His122Tyr), NCI-TCGA Cosmic COSV6330, Variant assessed as somatic; moderate impact.
- A123V (p.Ala123Val), rs372532715, ClinGen CA10465584, ClinVar RCV001341749, ClinVar RCV001825872, REVEL 0.05, MetaLR 0.14, Uncertain significance, Inborn genetic diseases; not provided
- L124F (p.Leu124Phe), rs765359472, ClinGen CA10465583, ClinVar RCV001483396, ExAC rs765359472, REVEL 0.12, AlphaMissense 0.06, Likely benign, not provided
- L124I (p.Leu124Ile), rs765359472, ClinGen CA413787332, ClinVar RCV001994382, ExAC rs765359472, AlphaMissense 0.06, MetaLR 0.09, Uncertain significance, not provided
- T126I (p.Thr126Ile), gnomAD rs1402975217, MetaLR 0.09, MetaSVM -1.04
- S127C (p.Ser127Cys), TOPMed rs1930441986
- A128E (p.Ala128Glu), NCI-TCGA Cosmic COSV1007, Variant assessed as somatic; moderate impact.
- A128T (p.Ala128Thr), Ensembl rs866285138
- A128V (p.Ala128Val), rs2147676316, ClinGen CA413787305, ClinVar RCV001883995, Ensembl rs2147676316, AlphaMissense 0.07, MetaLR 0.10, Uncertain significance, not provided
- N129D (p.Asn129Asp), rs759598256, ClinGen CA10465582, ClinVar RCV001074936, ClinVar RCV005913612, REVEL 0.02, MetaLR 0.12, Uncertain significance, Retinal dystrophy
- T131A (p.Thr131Ala), rs1930440793, ClinGen CA413787290, ClinVar RCV001325009, Ensembl rs1930440793, AlphaMissense 0.06, MetaLR 0.07, Uncertain significance, not provided
- T131L (p.Thr131Leu), rs2147676302, ClinGen CA2573159651, ClinVar RCV002254535, Ensembl rs2147676302, Pathogenic
- T131S (p.Thr131Ser), NCI-TCGA Cosmic COSV6330, MetaLR 0.17, MetaSVM -0.72, Variant assessed as somatic; moderate impact.
- A133T (p.Ala133Thr), TOPMed rs1178849935, gnomAD rs1178849935, REVEL 0.15, MetaLR 0.17, Uncertain significance, Inborn genetic diseases; not provided
- A133V (p.Ala133Val), rs867484071, ClinGen CA332655375, ClinVar RCV001988165, gnomAD rs867484071, REVEL 0.07, MetaLR 0.15, Uncertain significance, not provided
- D135H (p.Asp135His), NCI-TCGA Cosmic COSV6330, Variant assessed as somatic; moderate impact.
- S136P (p.Ser136Pro), gnomAD rs1158967997, REVEL 0.04, MetaLR 0.09
- F138L (p.Phe138Leu), NCI-TCGA Cosmic COSV1007, MetaLR 0.07, MetaSVM -1.05, Variant assessed as somatic; moderate impact.
- T141A (p.Thr141Ala), rs766636159, ClinGen CA10465580, ClinVar RCV003067275, ExAC rs766636159, REVEL 0.17, MetaLR 0.11, Uncertain significance, not provided
- T141M (p.Thr141Met), rs149749273, ClinGen CA10465579, ClinVar RCV001495730, ClinVar RCV005540460, REVEL 0.08, MetaLR 0.11, Likely benign, Inborn genetic diseases; not provided
- E142D (p.Glu142Asp), NCI-TCGA Cosmic COSV6330, REVEL 0.04, MetaLR 0.10, Variant assessed as somatic; moderate impact.
- D143G (p.Asp143Gly), gnomAD rs1208126173, REVEL 0.02, MetaLR 0.10
- D143Y (p.Asp143Tyr), rs771806748, ClinGen CA10465577, ClinVar RCV001462337, ExAC rs771806748, REVEL 0.10, MetaLR 0.15, Likely benign, not provided
- E144G (p.Glu144Gly), rs2520273268, ClinGen CA413787204, ClinVar RCV002975782, REVEL 0.02, MetaLR 0.14, Uncertain significance, not provided
- S145L (p.Ser145Leu), rs1555954612, ClinGen CA413787195, ClinVar RCV000593740, Ensembl rs1555954612, AlphaMissense 0.08, MetaLR 0.17, Uncertain significance, not provided
- L146* (p.Leu146Ter), rs2147676177, ClinGen CA413787192, ClinVar RCV002249359, ClinVar RCV003101341, Pathogenic
- S147R (p.Ser147Arg), NCI-TCGA Cosmic COSV1007, Variant assessed as somatic; moderate impact.
- T148I (p.Thr148Ile), Ensembl rs2147676160, MetaLR 0.10, MetaSVM -1.01
- M149I (p.Met149Ile), rs746057999, ClinGen CA10465575, ClinVar RCV001518602, ClinVar RCV001832702, REVEL 0.06, MetaLR 0.29, Uncertain significance, Inborn genetic diseases; not provided
- M149K (p.Met149Lys), TOPMed rs1930434759, REVEL 0.08, MetaLR 0.22
- S150I (p.Ser150Ile), Ensembl rs1386869495
- S150N (p.Ser150Asn), rs1386869495, NCI-TCGA Cosmic COSV1007, Ensembl rs1386869495, AlphaMissense 0.10, MetaLR 0.51, Variant assessed as somatic; moderate impact.
- C151R (p.Cys151Arg), TOPMed rs1930433761, REVEL 0.06, MetaLR 0.44
- C151S (p.Cys151Ser), NCI-TCGA Cosmic COSV6330, Variant assessed as somatic; moderate impact.
- E152* (p.Glu152Ter), rs2520273128, ClinGen CA2580612438, ClinVar RCV003314490, Likely pathogenic
- E152D (p.Glu152Asp), TOPMed rs1215527436, gnomAD rs1215527436, REVEL 0.06, MetaLR 0.45
- T155A (p.Thr155Ala), Ensembl rs1930432952, REVEL 0.06, MetaLR 0.23
- T155K (p.Thr155Lys), rs1930432610, ClinGen CA413787120, ClinVar RCV001205355, Ensembl rs1930432610, AlphaMissense 0.08, MetaLR 0.34, Uncertain significance, not provided
- E156Q (p.Glu156Gln), ExAC rs768634730, MetaLR 0.15, MetaSVM -0.97
- Q157* (p.Gln157Ter), rs1930431885, ClinGen CA413787104, ClinVar RCV001199666, Ensembl rs1930431885, Pathogenic
- Q157R (p.Gln157Arg), TOPMed rs1930431444, gnomAD rs1930431444, REVEL 0.03, MetaLR 0.10
- S160G (p.Ser160Gly), TOPMed rs1423975286, MetaLR 0.10, MetaSVM -1.05, Uncertain significance, not provided
- S161G (p.Ser161Gly), rs748810856, ClinGen CA10465573, ClinVar RCV001046170, ClinVar RCV005318583, REVEL 0.05, MetaLR 0.18, Uncertain significance, not provided; Inborn genetic diseases
- D162H (p.Asp162His), ExAC rs755873471, TOPMed rs755873471, gnomAD rs755873471, Likely benign
Public CHM analysis runs
- CHM analysis run — CHM (941 variants) — completed 2026-08-21