CHAMP1 (Q96JM3) variants and mutations
CHAMP1 (also known as Q96JM3) is a human protein-coding gene encoding a chromosome alignment-maintaining phosphoprotein 1 protein. A chromosome-segregation protein that helps align chromosomes at metaphase and maintain their attachment to spindle microtubules. Its work at the kinetochore helps cells distribute genetic material accurately during mitosis. This analysis covers 1,529 CHAMP1 variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes intellectual disability, autosomal dominant 40, neurodegenerative disease, and Intellectual disability. Example CHAMP1 variants include E2D, A3V, and A3A.
Variant analysis overview
- Gene: CHAMP1
- Protein: Q96JM3
- UniProt accession: Q96JM3
- Organism: Homo sapiens
- Variants analyzed: 1529
- Variant scope: all variants
- Completed: 2026-06-04
Variant and mutation evidence
- Variant composition: 1,044 unspecified-consequence records; 197 synonymous variants; 262 missense variants; 17 in-frame deletions; 3 in-frame insertions; 3 frameshift variants; 1 protein altering variant; 2 stop-gained variants
- Prediction scores: 1,504 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: intellectual disability, autosomal dominant 40, neurodegenerative disease, Intellectual disability, blepharophimosis, ptosis, and epicanthus inversus syndrome, genetic disorder, Neurodevelopmental disorder, complex neurodevelopmental disorder, retinopathy, hypertension, obesity, Ichthyosis - hepatosplenomegaly - cerebellar degeneration, ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome.
Protein structure and variant hotspots
- Protein features: 52 post-translational modification sites.
- PTM context: 93 variants overlap post-translational modification sites.
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, PharmGKB, MaveDB, LitVar.
Notable CHAMP1 variants
Examples include E2D, A3V, A3A, F4V, Q5*, Q5H, Q5Q, E6G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2D (p.Glu2Asp), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- A3V (p.Ala3Val), Ensembl rs2139417912, ESM-1b 0.00, AlphaMissense 0.05
- A3A (p.Ala3Ala), gnomAD 13-114323851-A-G, CADD 10.20
- F4V (p.Phe4Val), ExAC rs782131661, TOPMed rs782131661, gnomAD rs782131661, REVEL 0.04, ESM-1b 0.00, Uncertain significance, not specified
- Q5* (p.Gln5Ter), TOPMed rs2087202679
- Q5H (p.Gln5His), gnomAD 13-114323857-G-C, REVEL 0.03, ESM-1b 0.00
- Q5Q (p.Gln5Gln), rs1555379315, gnomAD 13-114323857-G-A, CADD 6.16
- E6G (p.Glu6Gly), 1000Genomes rs201032426, gnomAD rs201032426, REVEL 0.11, ESM-1b 0.00
- E6E (p.Glu6Glu), gnomAD 13-114323860-A-G, CADD 5.33
- p.Leu7 Lys9del, rs782609640, gnomAD 13-114323858-GAAC, CADD 16.50
- L7F (p.Leu7Phe), gnomAD 13-114323861-C-T, REVEL 0.04, ESM-1b 0.00
- R8C (p.Arg8Cys), rs371511810, ClinGen CA7070570, cosmic curated COSV63523, ClinVar RCV001311357, REVEL 0.18, ESM-1b 0.00, Likely benign, not provided
- R8H (p.Arg8His), TOPMed rs2087202927, gnomAD rs2087202927, REVEL 0.03, ESM-1b 0.00
- K9T (p.Lys9Thr), ExAC rs781909783, gnomAD rs781909783, REVEL 0.13, ESM-1b 0.00
- P10A (p.Pro10Ala), TOPMed rs1261183462, gnomAD rs1261183462, REVEL 0.04, ESM-1b 0.00
- P10T (p.Pro10Thr), gnomAD 13-114323870-C-A, REVEL 0.04, ESM-1b 0.00
- P10P (p.Pro10Pro), rs782156847, gnomAD 13-114323872-A-T, CADD 4.64
- S11L (p.Ser11Leu), TOPMed rs1193198344, gnomAD rs1193198344, REVEL 0.13, ESM-1b 0.00
- S11P (p.Ser11Pro), gnomAD 13-114323873-T-C, REVEL 0.04, ESM-1b 0.00
- A12G (p.Ala12Gly), ExAC rs781801530, TOPMed rs781801530, gnomAD rs781801530, REVEL 0.03, ESM-1b 0.00
- A12S (p.Ala12Ser), ESP rs374161591, ExAC rs374161591, TOPMed rs374161591, REVEL 0.03, ESM-1b 0.00
- A12T (p.Ala12Thr), ESP rs374161591, ExAC rs374161591, TOPMed rs374161591, REVEL 0.03, ESM-1b 0.00
- A12V (p.Ala12Val), gnomAD 13-114323877-C-T, REVEL 0.04, ESM-1b 0.00
- A12E (p.Ala12Glu), gnomAD 13-114323877-C-A, REVEL 0.04, ESM-1b 0.00
- A12A (p.Ala12Ala), gnomAD 13-114323878-A-G, CADD 8.30
- R13C (p.Arg13Cys), rs201268340, ClinGen CA7070575, ClinVar RCV003885898, ESP rs201268340, REVEL 0.15, ESM-1b 0.00, Uncertain significance, not provided
- R13H (p.Arg13His), rs138074590, ClinGen CA7070576, cosmic curated COSV63522, ClinVar RCV002965607, REVEL 0.01, ESM-1b 0.00, Likely benign, Inborn genetic diseases; Complex neurodevelopmental disorder
- R13L (p.Arg13Leu), rs138074590, ESP rs138074590, ExAC rs138074590, TOPMed rs138074590, REVEL 0.03, ESM-1b 0.00, Likely benign
- R13S (p.Arg13Ser), ESP rs201268340, ExAC rs201268340, TOPMed rs201268340, gnomAD rs201268340, ESM-1b 0.00, AlphaMissense 0.16, Uncertain significance
- L14S (p.Leu14Ser), gnomAD 13-114323883-T-C, REVEL 0.16, ESM-1b 0.91
- E15E (p.Glu15Glu), rs201860837, gnomAD 13-114323887-G-A, CADD 7.81
- C16R (p.Cys16Arg), gnomAD 13-114323888-T-C, REVEL 0.37, ESM-1b 1.00
- C16Y (p.Cys16Tyr), gnomAD 13-114323889-G-A, REVEL 0.42, ESM-1b 1.00
- D17H (p.Asp17His), NCI-TCGA Cosmic COSV6352, cosmic curated COSV63522, ESM-1b 1.00, AlphaMissense 0.26, Variant assessed as somatic; moderate impact.
- D17Y (p.Asp17Tyr), gnomAD 13-114323891-G-T, REVEL 0.20, ESM-1b 1.00
- p.Asp17 His18insPro, rs1325048956, gnomAD 13-114323892-A-AC, CADD 16.90
- H18R (p.His18Arg), ExAC rs782665511, gnomAD rs782665511, REVEL 0.18, ESM-1b 0.00
- H18Q (p.His18Gln), gnomAD 13-114323896-T-G, REVEL 0.19, ESM-1b 0.00
- H18H (p.His18His), rs143869900, gnomAD 13-114323896-T-C, CADD 9.14
- C19C (p.Cys19Cys), gnomAD 13-114323899-C-T, CADD 9.30
- S20N (p.Ser20Asn), gnomAD rs2087203674, REVEL 0.06, ESM-1b 0.00
- S20R (p.Ser20Arg), TOPMed rs2087203621, ESM-1b 0.43, AlphaMissense 0.23, Uncertain significance, not provided
- F21F (p.Phe21Phe), gnomAD 13-114323905-C-T, CADD 10.40
- R22T (p.Arg22Thr), NCI-TCGA TCGA novel, ESM-1b 0.29, AlphaMissense 0.17, Variant assessed as somatic; moderate impact.
- R22R (p.Arg22Arg), gnomAD 13-114323908-A-G, CADD 12.80
- G23S (p.Gly23Ser), rs2503196132, ClinGen CA388844938, ClinVar RCV002471250, ESM-1b 0.00, AlphaMissense 0.55, Uncertain significance, See cases
- G23V (p.Gly23Val), gnomAD 13-114323910-G-T, REVEL 0.40, ESM-1b 1.00
- T24I (p.Thr24Ile), Ensembl rs2087203721, ESM-1b 0.00, AlphaMissense 0.26
- T24T (p.Thr24Thr), rs370877959, gnomAD 13-114323914-A-C, CADD 2.31
- D25E (p.Asp25Glu), gnomAD rs1555379328, REVEL 0.21, ESM-1b 0.11
- D25G (p.Asp25Gly), ExAC rs782620299, gnomAD rs782620299, REVEL 0.29, ESM-1b 1.00
- D25H (p.Asp25His), gnomAD 13-114323915-G-C, REVEL 0.25, ESM-1b 1.00
- Y26C (p.Tyr26Cys), cosmic curated COSV10888, ESM-1b 1.00, AlphaMissense 0.33
- Y26F (p.Tyr26Phe), Ensembl rs747725810, REVEL 0.13, ESM-1b 1.00
- Y26H (p.Tyr26His), gnomAD 13-114323918-T-C, REVEL 0.15, ESM-1b 0.00
- E27Q (p.Glu27Gln), cosmic curated COSV63523, ESM-1b 0.00, AlphaMissense 0.39
- E27A (p.Glu27Ala), gnomAD 13-114323922-A-C, REVEL 0.27, ESM-1b 0.57
- E27E (p.Glu27Glu), rs146349096, gnomAD 13-114323923-A-G, CADD 9.96
- N28H (p.Asn28His), gnomAD rs1555379330, REVEL 0.19, ESM-1b 0.66
- N28S (p.Asn28Ser), Ensembl rs2139418089, REVEL 0.13, ESM-1b 0.00
- N28K (p.Asn28Lys), gnomAD 13-114323926-T-G, REVEL 0.13, ESM-1b 0.00
- N28N (p.Asn28Asn), rs782083386, gnomAD 13-114323926-T-C, CADD 9.00
- V29I (p.Val29Ile), rs2139418101, ClinVar RCV004576080, Ensembl rs2139418101, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not provided
- V29A (p.Val29Ala), gnomAD 13-114323928-T-C, REVEL 0.14, ESM-1b 1.00
- V29V (p.Val29Val), rs1555379332, gnomAD 13-114323929-A-C, CADD 6.20
- Q30Q (p.Gln30Gln), gnomAD 13-114323932-A-G, CADD 7.20
- H32Y (p.His32Tyr), cosmic curated COSV63521, Ensembl rs267603766, ESM-1b 1.00, AlphaMissense 0.93
- H32H (p.His32His), gnomAD 13-114323938-T-C, CADD 8.80
- M33V (p.Met33Val), ExAC rs782387383, TOPMed rs782387383, gnomAD rs782387383, REVEL 0.14, ESM-1b 0.00
- G34C (p.Gly34Cys), cosmic curated COSV10077, ESM-1b 1.00, AlphaMissense 0.99
- T35A (p.Thr35Ala), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.16, Variant assessed as somatic; moderate impact.
- T35S (p.Thr35Ser), gnomAD 13-114323945-A-T, REVEL 0.07, ESM-1b 0.33
- T35T (p.Thr35Thr), gnomAD 13-114323947-C-T, CADD 9.42
- I36F (p.Ile36Phe), rs781988354, ClinGen CA7070585, ClinVar RCV000504461, ExAC rs781988354, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not specified
- I36M (p.Ile36Met), rs1405856923, ClinGen CA388845033, ClinVar RCV001765781, TOPMed rs1405856923, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not provided
- H37Q (p.His37Gln), cosmic curated COSV10753, ESM-1b 1.00, AlphaMissense 0.99
- P38A (p.Pro38Ala), gnomAD 13-114323954-C-G, REVEL 0.22, ESM-1b 1.00
- P38S (p.Pro38Ser), gnomAD 13-114323954-C-T, REVEL 0.22, ESM-1b 1.00
- F40F (p.Phe40Phe), rs1337936279, gnomAD 13-114323962-T-C, CADD 9.05
- M44R (p.Met44Arg), gnomAD 13-114323973-T-G, REVEL 0.31, ESM-1b 1.00
- D45V (p.Asp45Val), TOPMed rs1471274493, gnomAD rs1471274493, REVEL 0.35, ESM-1b 0.00
- A46V (p.Ala46Val), gnomAD 13-114323979-C-T, REVEL 0.18, ESM-1b 0.00
- G47D (p.Gly47Asp), TOPMed rs1170064140, REVEL 0.16, ESM-1b 0.00
- G47R (p.Gly47Arg), TOPMed rs1421565838, gnomAD rs1421565838, REVEL 0.24, ESM-1b 0.24
- G48W (p.Gly48Trp), cosmic curated COSV10077, ESM-1b 1.00, AlphaMissense 0.87
- G48E (p.Gly48Glu), gnomAD 13-114323985-G-A, REVEL 0.35, ESM-1b 1.00
- G48G (p.Gly48Gly), gnomAD 13-114323986-G-A, CADD 1.03
- L49Q (p.Leu49Gln), TOPMed rs2087204573, REVEL 0.27, ESM-1b 1.00
- L49L (p.Leu49Leu), rs1594128540, gnomAD 13-114323987-C-T, CADD 7.14
- G50D (p.Gly50Asp), gnomAD rs1555379336, ESM-1b 1.00, AlphaMissense 0.96
- G50G (p.Gly50Gly), rs1594128554, gnomAD 13-114323992-C-T, CADD 6.84
- M52I (p.Met52Ile), TOPMed rs1421943883, gnomAD rs1421943883, REVEL 0.08, ESM-1b 0.00
- F54V (p.Phe54Val), gnomAD rs1555379338, REVEL 0.21, ESM-1b 1.00
- F54C (p.Phe54Cys), gnomAD 13-114324003-T-G, REVEL 0.25, ESM-1b 1.00
- Y55N (p.Tyr55Asn), gnomAD 13-114324005-T-A, REVEL 0.21, ESM-1b 1.00
- Q56* (p.Gln56Ter), gnomAD rs1555379341
- Q56K (p.Gln56Lys), cosmic curated COSV10077, ESM-1b 1.00, AlphaMissense 0.95
- Q56L (p.Gln56Leu), NCI-TCGA Cosmic COSV6352, cosmic curated COSV63521, ESM-1b 1.00, AlphaMissense 0.96, Variant assessed as somatic; moderate impact.
- Q56Q (p.Gln56Gln), rs2087204882, gnomAD 13-114324010-G-A, AlphaMissense 0.23, MetaLR 0.16
- K57R (p.Lys57Arg), rs782162864, ClinGen CA7070586, ClinVar RCV001196093, ExAC rs782162864, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Intellectual disability, autosomal dominant 40
- S58N (p.Ser58Asn), gnomAD 13-114324015-G-A, REVEL 0.18, ESM-1b 0.83
- S58I (p.Ser58Ile), gnomAD 13-114324015-G-T, REVEL 0.21, ESM-1b 0.54
- A59L (p.Ala59Leu), cosmic curated COSV63523, ESM-1b 1.00, AlphaMissense 0.95
- A59S (p.Ala59Ser), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.62, Variant assessed as somatic; moderate impact.
- A59V (p.Ala59Val), NCI-TCGA TCGA novel, ESM-1b 0.68, AlphaMissense 0.97, Variant assessed as somatic; moderate impact.
- K60V (p.Lys60Val), gnomAD 13-114324018-CAA-, CADD 27.60
- K60Q (p.Lys60Gln), gnomAD 13-114324020-A-C, REVEL 0.25, ESM-1b 1.00
- L61L (p.Leu61Leu), rs1555379342, gnomAD 13-114324025-A-G, CADD 1.73
- H63Y (p.His63Tyr), cosmic curated COSV63522, ESM-1b 0.09, AlphaMissense 0.94
- C64Y (p.Cys64Tyr), cosmic curated COSV10610, ESM-1b 1.00, AlphaMissense 1.00
- C64C (p.Cys64Cys), rs782421881, gnomAD 13-114324034-C-T, CADD 11.10
- H65R (p.His65Arg), gnomAD 13-114324036-A-G, REVEL 0.29, ESM-1b 0.00
- K66* (p.Lys66Ter), ExAC rs781942990, TOPMed rs781942990, gnomAD rs781942990, CADD 35.00
- K66E (p.Lys66Glu), ExAC rs781942990, TOPMed rs781942990, gnomAD rs781942990, REVEL 0.21, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- K66N (p.Lys66Asn), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, ESM-1b 1.00, AlphaMissense 0.77, Variant assessed as somatic; moderate impact.
- K66T (p.Lys66Thr), gnomAD 13-114324039-A-C, REVEL 0.17, ESM-1b 1.00
- K66K (p.Lys66Lys), gnomAD 13-114324040-A-G, CADD 10.20
- C67Y (p.Cys67Tyr), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- F68C (p.Phe68Cys), gnomAD 13-114324045-T-G, REVEL 0.34, ESM-1b 1.00
- F68F (p.Phe68Phe), rs1555379343, gnomAD 13-114324046-C-T, CADD 9.76
- T70T (p.Thr70Thr), gnomAD 13-114324052-C-G, AlphaMissense 0.43, MetaLR 0.19
- K72R (p.Lys72Arg), ExAC rs782058113, gnomAD rs782058113, REVEL 0.28, ESM-1b 0.99
- M73V (p.Met73Val), gnomAD 13-114324059-A-G, REVEL 0.17, ESM-1b 0.38
- M73R (p.Met73Arg), gnomAD 13-114324060-T-G, REVEL 0.21, ESM-1b 1.00
- Y74C (p.Tyr74Cys), cosmic curated COSV63521, ESM-1b 1.00, AlphaMissense 0.96
- S75C (p.Ser75Cys), 1000Genomes rs373952414, ESP rs373952414, ExAC rs373952414, TOPMed rs373952414, REVEL 0.05, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- S75F (p.Ser75Phe), 1000Genomes rs373952414, ESP rs373952414, ExAC rs373952414, TOPMed rs373952414, REVEL 0.12, ESM-1b 1.00
- S75P (p.Ser75Pro), gnomAD 13-114324065-T-C, REVEL 0.12, ESM-1b 1.00
- N76D (p.Asn76Asp), ExAC rs782107379, TOPMed rs782107379, gnomAD rs782107379, REVEL 0.23, ESM-1b 1.00
- N76S (p.Asn76Ser), gnomAD 13-114324069-A-G, REVEL 0.22, ESM-1b 1.00
- V77L (p.Val77Leu), gnomAD 13-114324071-G-C, REVEL 0.31, ESM-1b 0.00
- V77I (p.Val77Ile), gnomAD 13-114324071-G-A, REVEL 0.27, ESM-1b 0.00
- V77V (p.Val77Val), rs781981095, gnomAD 13-114324073-A-C, CADD 2.50
- Y79C (p.Tyr79Cys), ExAC rs781883119, gnomAD rs781883119, REVEL 0.25, ESM-1b 1.00
- Y79F (p.Tyr79Phe), ExAC rs781883119, gnomAD rs781883119, REVEL 0.13, ESM-1b 1.00
- Y79S (p.Tyr79Ser), gnomAD 13-114324078-A-C, REVEL 0.25, ESM-1b 1.00
- I81V (p.Ile81Val), gnomAD rs1555379347, REVEL 0.17, ESM-1b 0.00
- T82A (p.Thr82Ala), 1000Genomes rs576015545, REVEL 0.18, ESM-1b 1.00
- T82T (p.Thr82Thr), gnomAD 13-114324088-A-G, CADD 1.73
- S83T (p.Ser83Thr), ExAC rs782444125, gnomAD rs782444125, REVEL 0.07, ESM-1b 0.00
- S83F (p.Ser83Phe), gnomAD 13-114324090-C-T, REVEL 0.11, ESM-1b 1.00
- H85L (p.His85Leu), gnomAD 13-114324096-A-T, REVEL 0.32, ESM-1b 1.00
- H85R (p.His85Arg), gnomAD 13-114324096-A-G, REVEL 0.30, ESM-1b 1.00
- A86E (p.Ala86Glu), ESP rs139187778, ExAC rs139187778, TOPMed rs139187778, gnomAD rs139187778, REVEL 0.09, ESM-1b 0.00
- A86T (p.Ala86Thr), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- A86A (p.Ala86Ala), rs2087205621, gnomAD 13-114324100-A-G, CADD 9.77
- S87P (p.Ser87Pro), gnomAD 13-114324101-T-C, REVEL 0.02, ESM-1b 0.00
- S87S (p.Ser87Ser), rs1555379351, gnomAD 13-114324103-C-T, CADD 9.23
- P88L (p.Pro88Leu), ESP rs143111151, ExAC rs143111151, TOPMed rs143111151, gnomAD rs143111151, REVEL 0.07, ESM-1b 0.00
- P88S (p.Pro88Ser), gnomAD rs1555379354, ESM-1b 0.00, AlphaMissense 0.08
- D89H (p.Asp89His), NCI-TCGA Cosmic COSV6352, cosmic curated COSV63522, ESM-1b 0.42, AlphaMissense 0.20, Variant assessed as somatic; moderate impact.
- D89N (p.Asp89Asn), ExAC rs782469663, gnomAD rs782469663, REVEL 0.16, ESM-1b 0.00
- D89D (p.Asp89Asp), gnomAD 13-114324109-C-T, CADD 8.37
- K90T (p.Lys90Thr), gnomAD 13-114324111-A-C, REVEL 0.08, ESM-1b 0.00
- K90K (p.Lys90Lys), rs1555379359, gnomAD 13-114324112-A-G, CADD 8.63
- N92K (p.Asn92Lys), Ensembl rs35054271, ESM-1b 0.00, AlphaMissense 0.15
- D93del (p.Asp93del), gnomAD 13-114324116-AATG, CADD 17.60
- D93D (p.Asp93Asp), gnomAD 13-114324121-T-C, CADD 8.13
- K94Q (p.Lys94Gln), Ensembl rs1594128675, ESM-1b 0.00, AlphaMissense 0.09
- P95L (p.Pro95Leu), Ensembl rs2087206019, ESM-1b 0.00, AlphaMissense 0.08
- P95S (p.Pro95Ser), ExAC rs782652629, TOPMed rs782652629, gnomAD rs782652629, REVEL 0.06, ESM-1b 0.00
- P95P (p.Pro95Pro), rs1555379362, gnomAD 13-114324127-A-G, CADD 7.67
- K96R (p.Lys96Arg), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10077, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- K96K (p.Lys96Lys), rs2139418284, gnomAD 13-114324130-A-G, CADD 8.49
- N97I (p.Asn97Ile), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.09, Variant assessed as somatic; high impact.
- Q98H (p.Gln98His), gnomAD 13-114324136-G-T, REVEL 0.07, ESM-1b 0.00
- L99W (p.Leu99Trp), TOPMed rs1555379363, gnomAD rs1555379363, REVEL 0.07, ESM-1b 0.40
- L99F (p.Leu99Phe), gnomAD 13-114324139-G-T, REVEL 0.06, ESM-1b 0.00
- N100H (p.Asn100His), gnomAD 13-114324140-A-C, REVEL 0.04, ESM-1b 0.00
- K101R (p.Lys101Arg), gnomAD rs1555379364, REVEL 0.04, ESM-1b 0.00
- E102* (p.Glu102Ter), NCI-TCGA Cosmic COSV6352, cosmic curated COSV63522, Variant assessed as somatic; high impact.
- E102K (p.Glu102Lys), cosmic curated COSV63523, ESM-1b 0.00, AlphaMissense 0.14
- E102E (p.Glu102Glu), rs782242424, gnomAD 13-114324148-A-G, CADD 6.86
- T103A (p.Thr103Ala), gnomAD 13-114324149-A-G, REVEL 0.09, ESM-1b 0.00
- T103I (p.Thr103Ile), gnomAD 13-114324150-C-T, REVEL 0.06, ESM-1b 0.00
- D104A (p.Asp104Ala), Ensembl rs541872327, REVEL 0.07, ESM-1b 0.00
- D104E (p.Asp104Glu), gnomAD 13-114324154-T-A, REVEL 0.04, ESM-1b 0.00
- D104D (p.Asp104Asp), gnomAD 13-114324154-T-C, CADD 4.81
- P105H (p.Pro105His), TOPMed rs1307674136, gnomAD rs1307674136, ESM-1b 0.00, AlphaMissense 0.09
- P105L (p.Pro105Leu), cosmic curated COSV63523, TOPMed rs1307674136, gnomAD rs1307674136, REVEL 0.04, ESM-1b 0.00
Public CHAMP1 analysis runs
- CHAMP1 analysis run — CHAMP1 (1,529 variants) — completed 2026-06-04