VSIR (Q9H7M9) variants and mutations
VSIR (also known as Q9H7M9) is a human protein-coding gene encoding a v-type immunoglobulin domain-containing suppressor of T-cell activation protein. It suppresses T-cell activation and helps maintain immune quiescence, particularly within myeloid-rich environments. Its inhibitory activity in tumors makes it an emerging immune-checkpoint target for cancer therapy. This analysis covers 586 VSIR variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes hypothyroidism, alcohol drinking, and neoplasm. Example VSIR variants include G2S, V3A, and V3F.
Variant analysis overview
- Gene: VSIR
- Protein: Q9H7M9
- UniProt accession: Q9H7M9
- Organism: Homo sapiens
- Variants analyzed: 586
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 359 unspecified-consequence records; 1 stop lost; 90 synonymous variants; 113 missense variants; 5 splice-region variants; 4 in-frame deletions; 11 frameshift variants; 5 stop-gained variants
- Prediction scores: 491 variants have prediction scores (84% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypothyroidism, alcohol drinking, neoplasm, ulcerative colitis, cancer, acute myeloid leukemia, breast cancer, breast carcinoma, colorectal carcinoma, gastric cancer, Miyoshi myopathy, asthma.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 5 post-translational modification sites.
- Structural context: 193 variants have structural context.
- PTM context: 8 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable VSIR variants
Examples include G2S, V3A, V3F, P4R, T5A, A6T, A6V, L7P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- G2S (p.Gly2Ser), TOPMed rs1840736048, REVEL 0.02, CADD 13.00
- V3A (p.Val3Ala), TOPMed rs1393980790, gnomAD rs1393980790, REVEL 0.04, CADD 20.90
- V3F (p.Val3Phe), TOPMed rs1840735926, REVEL 0.03, CADD 13.70
- P4R (p.Pro4Arg), ExAC rs764392258, TOPMed rs764392258, gnomAD rs764392258, REVEL 0.10, CADD 17.20
- T5A (p.Thr5Ala), TOPMed rs1840735569
- A6T (p.Ala6Thr), gnomAD rs1468526007, REVEL 0.12, CADD 16.60
- A6V (p.Ala6Val), gnomAD rs1234464866, REVEL 0.07, CADD 3.98
- L7P (p.Leu7Pro), rs3747862, ClinGen CA5545531, ClinVar RCV000988382, ClinVar RCV004718807, REVEL 0.05, CADD 17.40, Benign, Retinitis pigmentosa-deafness syndrome; not provided
- L7Q (p.Leu7Gln), 1000Genomes rs3747862, ESP rs3747862, ExAC rs3747862, TOPMed rs3747862, REVEL 0.03, CADD 18.20, Benign
- L7R (p.Leu7Arg), 1000Genomes rs3747862, ESP rs3747862, ExAC rs3747862, TOPMed rs3747862, Benign
- A9D (p.Ala9Asp), ExAC rs767849717, REVEL 0.15, CADD 22.90
- A9S (p.Ala9Ser), gnomAD rs1270829068, REVEL 0.01, CADD 19.10
- G10A (p.Gly10Ala), TOPMed rs1215056530, gnomAD rs1215056530, REVEL 0.03, CADD 10.70
- S11I (p.Ser11Ile), gnomAD rs1334848983, REVEL 0.02, CADD 16.00
- W12R (p.Trp12Arg), Ensembl rs112365414
- R13H (p.Arg13His), ExAC rs751692062, TOPMed rs751692062, gnomAD rs751692062, REVEL 0.05, CADD 21.30
- W14L (p.Trp14Leu), ExAC rs766522898, REVEL 0.09, CADD 22.00
- G15V (p.Gly15Val), TOPMed rs1840733432, gnomAD rs1840733432, REVEL 0.07, CADD 19.40
- F19L (p.Phe19Leu), TOPMed rs1447953206, gnomAD rs1447953206, REVEL 0.04, CADD 7.19
- A20S (p.Ala20Ser), Ensembl rs1335247729
- A20V (p.Ala20Val), Ensembl rs1589413349
- L21P (p.Leu21Pro), ExAC rs761861071, gnomAD rs761861071, REVEL 0.34, CADD 25.80
- L21V (p.Leu21Val), TOPMed rs1394050536, gnomAD rs1394050536, REVEL 0.03, CADD 10.50
- F22L (p.Phe22Leu), 1000Genomes rs370261405, ExAC rs370261405, TOPMed rs370261405, gnomAD rs370261405, REVEL 0.24, CADD 24.80, Uncertain significance, not provided
- L23R (p.Leu23Arg), TOPMed rs1840732071, gnomAD rs1840732071, REVEL 0.28, CADD 24.00
- A25G (p.Ala25Gly), TOPMed rs1840731907
- A25T (p.Ala25Thr), 1000Genomes rs146887444, ESP rs146887444, ExAC rs146887444, TOPMed rs146887444, REVEL 0.03, CADD 18.60
- G28D (p.Gly28Asp), Ensembl rs1589405980
- G28R (p.Gly28Arg), TOPMed rs1840731733
- P29A (p.Pro29Ala), ExAC rs774042928, TOPMed rs774042928, gnomAD rs774042928
- P29L (p.Pro29Leu), rs202090521, ClinGen CA5545500, ClinVar RCV004485018, 1000Genomes rs202090521, REVEL 0.04, CADD 15.00, Likely benign, not specified
- P29S (p.Pro29Ser), ExAC rs774042928, TOPMed rs774042928, gnomAD rs774042928, REVEL 0.05, CADD 18.20
- P29T (p.Pro29Thr), ExAC rs774042928, TOPMed rs774042928, gnomAD rs774042928
- V30G (p.Val30Gly), gnomAD rs1298872469, REVEL 0.15, CADD 18.40
- V30L (p.Val30Leu), ExAC rs770336023, gnomAD rs770336023
- V30M (p.Val30Met), ExAC rs770336023, gnomAD rs770336023, REVEL 0.12, CADD 22.80
- A32D (p.Ala32Asp), ExAC rs748561288, gnomAD rs748561288
- A32G (p.Ala32Gly), ExAC rs748561288, gnomAD rs748561288, REVEL 0.28, CADD 26.90
- A32T (p.Ala32Thr), gnomAD rs1840405493, REVEL 0.19, CADD 23.40
- K34N (p.Lys34Asn), Ensembl rs1589405961, REVEL 0.15, CADD 23.40
- V35A (p.Val35Ala), TOPMed rs1032952373, gnomAD rs1032952373, REVEL 0.27, CADD 23.80
- V35D (p.Val35Asp), TOPMed rs1032952373, gnomAD rs1032952373, REVEL 0.37, CADD 27.00
- V35F (p.Val35Phe), gnomAD rs979305204, REVEL 0.18, CADD 23.10
- V35I (p.Val35Ile), gnomAD rs979305204
- A36T (p.Ala36Thr), rs1466317019, TOPMed rs1466317019, gnomAD rs1466317019, REVEL 0.09, CADD 6.86, Variant assessed as somatic; moderate impact.
- A36V (p.Ala36Val), Ensembl rs1840404668, REVEL 0.07, CADD 20.20
- T37M (p.Thr37Met), ExAC rs199678615, TOPMed rs199678615, gnomAD rs199678615, REVEL 0.11, CADD 25.10
- P38L (p.Pro38Leu), rs758679492, NCI-TCGA Cosmic COSV9982, ExAC rs758679492, REVEL 0.16, CADD 21.50, Variant assessed as somatic; moderate impact.
- Y42C (p.Tyr42Cys), Ensembl rs1840403776
- V43I (p.Val43Ile), ExAC rs146576171, TOPMed rs146576171, gnomAD rs146576171, REVEL 0.06, CADD 13.30
- P45L (p.Pro45Leu), ExAC rs766081048, gnomAD rs766081048
- E46K (p.Glu46Lys), rs149997496, ESP rs149997496, TOPMed rs149997496, gnomAD rs149997496, REVEL 0.50, CADD 25.40, Variant assessed as somatic; moderate impact.
- G47E (p.Gly47Glu), TOPMed rs1249756031, gnomAD rs1249756031, REVEL 0.78, CADD 26.30
- G47R (p.Gly47Arg), ExAC rs772806957, gnomAD rs772806957, REVEL 0.78, CADD 26.70
- Q48* (p.Gln48Ter), NCI-TCGA Cosmic COSV9982, Variant assessed as somatic; high impact.
- V50D (p.Val50Asp), ESP rs139311819, TOPMed rs139311819
- V50I (p.Val50Ile), rs747668966, NCI-TCGA Cosmic COSV9982, ExAC rs747668966, gnomAD rs747668966, REVEL 0.14, CADD 20.30, Variant assessed as somatic; moderate impact.
- T51A (p.Thr51Ala), TOPMed rs1840402211
- T51I (p.Thr51Ile), Ensembl rs868769898
- T53A (p.Thr53Ala), 1000Genomes rs143578704, ExAC rs143578704, gnomAD rs143578704, REVEL 0.12, CADD 23.90
- T53I (p.Thr53Ile), gnomAD rs1396397345, REVEL 0.34, CADD 25.40
- L56F (p.Leu56Phe), rs1296226004, NCI-TCGA Cosmic COSV5649, TOPMed rs1296226004, gnomAD rs1296226004, REVEL 0.01, CADD 0.77, Variant assessed as somatic; moderate impact.
- L57F (p.Leu57Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P59H (p.Pro59His), NCI-TCGA Cosmic COSV9982, Variant assessed as somatic; moderate impact.
- D61E (p.Asp61Glu), ExAC rs747433704, TOPMed rs747433704, gnomAD rs747433704, REVEL 0.03, CADD 17.40
- K62Q (p.Lys62Gln), TOPMed rs1840401055
- G63R (p.Gly63Arg), gnomAD rs1840400913, NCI-TCGA TCGA novel, REVEL 0.09, CADD 14.20, Variant assessed as somatic; moderate impact.
- H64Y (p.His64Tyr), ExAC rs780506257, TOPMed rs780506257, gnomAD rs780506257, REVEL 0.43, CADD 25.10
- D65N (p.Asp65Asn), rs370867717, ESP rs370867717, ExAC rs370867717, TOPMed rs370867717, REVEL 0.25, CADD 22.00, Variant assessed as somatic; moderate impact.
- V66M (p.Val66Met), ExAC rs779074664, gnomAD rs779074664, REVEL 0.14, CADD 17.00
- K70R (p.Lys70Arg), ESP rs368317783, ExAC rs368317783, TOPMed rs368317783, gnomAD rs368317783, REVEL 0.17, CADD 25.10
- T71K (p.Thr71Lys), ExAC rs767512752, gnomAD rs767512752
- T71M (p.Thr71Met), ExAC rs767512752, gnomAD rs767512752, REVEL 0.31, CADD 23.90
- Y73C (p.Tyr73Cys), ExAC rs751373284, TOPMed rs751373284, gnomAD rs751373284, REVEL 0.46, CADD 25.10
- R74C (p.Arg74Cys), ESP rs370678491, ExAC rs370678491, TOPMed rs370678491, gnomAD rs370678491, REVEL 0.33, CADD 31.00
- R74H (p.Arg74His), rs1397974862, NCI-TCGA Cosmic COSV5646, gnomAD rs1397974862, REVEL 0.24, CADD 23.50, Variant assessed as somatic; moderate impact.
- R74S (p.Arg74Ser), ESP rs370678491, ExAC rs370678491, TOPMed rs370678491, gnomAD rs370678491, REVEL 0.25, CADD 24.50
- S76L (p.Ser76Leu), 1000Genomes rs572650329, ExAC rs572650329, TOPMed rs572650329, gnomAD rs572650329, REVEL 0.04, CADD 22.80
- S76W (p.Ser76Trp), 1000Genomes rs572650329, ExAC rs572650329, TOPMed rs572650329, gnomAD rs572650329, REVEL 0.09, CADD 24.60
- R77W (p.Arg77Trp), gnomAD rs1304665446, REVEL 0.08, CADD 17.20
- G78D (p.Gly78Asp), NCI-TCGA Cosmic COSV5648, NCI-TCGA Cosmic COSV9982, Variant assessed as somatic; moderate impact.
- G78S (p.Gly78Ser), rs776266575, ClinGen CA5545461, ClinVar RCV004485014, ExAC rs776266575, REVEL 0.03, CADD 12.60, Uncertain significance, not specified
- G78V (p.Gly78Val), NCI-TCGA Cosmic COSV5648, NCI-TCGA Cosmic COSV9982, Variant assessed as somatic; moderate impact.
- E79K (p.Glu79Lys), ExAC rs747452242, gnomAD rs747452242, REVEL 0.09, CADD 22.40
- T82A (p.Thr82Ala), 1000Genomes rs554122532, ExAC rs554122532, TOPMed rs554122532, gnomAD rs554122532, REVEL 0.03, CADD 8.96
- C83Y (p.Cys83Tyr), gnomAD rs1458903739, REVEL 0.70, CADD 26.80
- E85D (p.Glu85Asp), gnomAD rs1180131437, REVEL 0.03, CADD 17.80
- E85G (p.Glu85Gly), TOPMed rs1049821483, gnomAD rs1049821483, REVEL 0.06, CADD 22.60
- R86C (p.Arg86Cys), ExAC rs772275519, TOPMed rs772275519, gnomAD rs772275519, REVEL 0.19, CADD 28.40
- R86H (p.Arg86His), rs746223877, ExAC rs746223877, TOPMed rs746223877, gnomAD rs746223877, REVEL 0.02, CADD 17.00, Variant assessed as somatic; moderate impact.
- R86L (p.Arg86Leu), ExAC rs746223877, TOPMed rs746223877, gnomAD rs746223877
- R87L (p.Arg87Leu), ExAC rs757499424, TOPMed rs757499424, gnomAD rs757499424, REVEL 0.29, CADD 16.80
- R87Q (p.Arg87Gln), rs757499424, ExAC rs757499424, TOPMed rs757499424, gnomAD rs757499424, REVEL 0.13, CADD 15.90, Variant assessed as somatic; moderate impact.
- R87W (p.Arg87Trp), 1000Genomes rs536277622, ExAC rs536277622, TOPMed rs536277622, gnomAD rs536277622, REVEL 0.36, CADD 24.30
- P88R (p.Pro88Arg), gnomAD rs1292198933, REVEL 0.21, CADD 23.40
- I89T (p.Ile89Thr), ExAC rs749430160, gnomAD rs749430160, REVEL 0.24, CADD 26.80
- I89V (p.Ile89Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R90C (p.Arg90Cys), ExAC rs777776745, TOPMed rs777776745, gnomAD rs777776745, REVEL 0.41, CADD 32.00
- R90H (p.Arg90His), rs374460058, NCI-TCGA Cosmic COSV5644, ESP rs374460058, ExAC rs374460058, REVEL 0.26, CADD 27.30, Variant assessed as somatic; moderate impact.
- R90L (p.Arg90Leu), ESP rs374460058, ExAC rs374460058, TOPMed rs374460058, gnomAD rs374460058, REVEL 0.36, CADD 26.90
- N91K (p.Asn91Lys), gnomAD rs1242057967, REVEL 0.21, CADD 25.90
- L92F (p.Leu92Phe), ExAC rs751445086, TOPMed rs751445086, gnomAD rs751445086, REVEL 0.03, CADD 17.70
- L92R (p.Leu92Arg), TOPMed rs1840396503, gnomAD rs1840396503, REVEL 0.16, CADD 27.40
- T93M (p.Thr93Met), rs780017291, NCI-TCGA Cosmic COSV5647, ExAC rs780017291, TOPMed rs780017291, REVEL 0.25, CADD 26.00, Variant assessed as somatic; moderate impact.
- Q95P (p.Gln95Pro), TOPMed rs1840396163
- H98R (p.His98Arg), ExAC rs761471586, gnomAD rs761471586, REVEL 0.06, CADD 23.10
- H98Y (p.His98Tyr), ExAC rs764853756, gnomAD rs764853756, REVEL 0.21, CADD 26.50
- L99R (p.Leu99Arg), gnomAD rs1935939278, REVEL 0.16, CADD 19.00
- L99V (p.Leu99Val), TOPMed rs1840395386
- H100D (p.His100Asp), TOPMed rs1421918286, gnomAD rs1421918286
- H100N (p.His100Asn), TOPMed rs1421918286, gnomAD rs1421918286
- H100Q (p.His100Gln), TOPMed rs1381380702, gnomAD rs1381380702, REVEL 0.20, CADD 19.40
- G102E (p.Gly102Glu), TOPMed rs1173399367, gnomAD rs1173399367, REVEL 0.09, CADD 17.50
- G102V (p.Gly102Val), TOPMed rs1173399367, gnomAD rs1173399367, REVEL 0.08, CADD 21.70
- G103D (p.Gly103Asp), TOPMed rs1840394669
- G103S (p.Gly103Ser), ExAC rs763658833, gnomAD rs763658833, REVEL 0.06, CADD 2.72
- H104R (p.His104Arg), ExAC rs761286923, gnomAD rs761286923, REVEL 0.30, CADD 25.70
- H104Y (p.His104Tyr), TOPMed rs1840394580
- Q105R (p.Gln105Arg), ExAC rs776190951, REVEL 0.06, CADD 17.20
- A106P (p.Ala106Pro), TOPMed rs1840394349
- A107V (p.Ala107Val), Ensembl rs2132890146
- N108T (p.Asn108Thr), ExAC rs772602381, gnomAD rs772602381, REVEL 0.18, CADD 19.60
- T109I (p.Thr109Ile), TOPMed rs1259591403, gnomAD rs1259591403, REVEL 0.13, CADD 5.36
- T109P (p.Thr109Pro), ExAC rs759888569, TOPMed rs759888569, gnomAD rs759888569, REVEL 0.10, CADD 13.50
- D112E (p.Asp112Glu), rs1346708628, ClinGen CA377135663, ClinVar RCV004485015, REVEL 0.12, CADD 13.00, Uncertain significance, not specified
- D112N (p.Asp112Asn), rs777848524, NCI-TCGA Cosmic COSV9982, ExAC rs777848524, gnomAD rs777848524, REVEL 0.10, CADD 19.00, Variant assessed as somatic; moderate impact.
- L113P (p.Leu113Pro), ExAC rs769905999, gnomAD rs769905999, REVEL 0.10, CADD 20.80
- A114S (p.Ala114Ser), ExAC rs748192850, gnomAD rs748192850, REVEL 0.07, CADD 18.10
- R116C (p.Arg116Cys), rs779919795, NCI-TCGA Cosmic COSV5648, ExAC rs779919795, TOPMed rs779919795, REVEL 0.31, CADD 21.20, Variant assessed as somatic; moderate impact.
- R116H (p.Arg116His), rs200390302, ESP rs200390302, ExAC rs200390302, TOPMed rs200390302, REVEL 0.08, CADD 6.78, Variant assessed as somatic; moderate impact.
- R116S (p.Arg116Ser), ExAC rs779919795, TOPMed rs779919795, gnomAD rs779919795, REVEL 0.11, CADD 8.41
- G118R (p.Gly118Arg), rs1312702295, gnomAD rs1312702295, REVEL 0.41, CADD 25.30, Variant assessed as somatic; moderate impact.
- G118W (p.Gly118Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E120D (p.Glu120Asp), Ensembl rs945065752
- E120G (p.Glu120Gly), Ensembl rs992881781
- E120K (p.Glu120Lys), gnomAD rs1840392394, REVEL 0.33, CADD 22.20
- S121L (p.Ser121Leu), ExAC rs757000474, TOPMed rs757000474, gnomAD rs757000474, REVEL 0.10, CADD 9.92
- D124N (p.Asp124Asn), ExAC rs760303333, TOPMed rs760303333, gnomAD rs760303333, REVEL 0.19, CADD 24.30
- H125R (p.His125Arg), gnomAD rs1840391989
- H126D (p.His126Asp), ExAC rs767970601, gnomAD rs767970601, REVEL 0.19, CADD 27.00
- G127S (p.Gly127Ser), gnomAD rs1323273262, REVEL 0.35, CADD 26.90
- F129L (p.Phe129Leu), TOPMed rs933792657, gnomAD rs933792657, REVEL 0.63, CADD 24.10
- S130F (p.Ser130Phe), rs1001283730, NCI-TCGA Cosmic COSV9982, TOPMed rs1001283730, gnomAD rs1001283730, REVEL 0.14, CADD 23.00, Variant assessed as somatic; moderate impact.
- S130Y (p.Ser130Tyr), TOPMed rs1001283730, gnomAD rs1001283730, REVEL 0.12, CADD 22.50
- I131V (p.Ile131Val), TOPMed rs1840390983, REVEL 0.17, CADD 17.40
- M133V (p.Met133Val), TOPMed rs952610698, REVEL 0.07, CADD 11.10
- R134C (p.Arg134Cys), ExAC rs760032960, TOPMed rs760032960, gnomAD rs760032960, REVEL 0.22, CADD 21.40
- R134H (p.Arg134His), 1000Genomes rs200235042, ExAC rs200235042, TOPMed rs200235042, gnomAD rs200235042, REVEL 0.09, CADD 6.00
- R134L (p.Arg134Leu), 1000Genomes rs200235042, ExAC rs200235042, TOPMed rs200235042, gnomAD rs200235042
- R134S (p.Arg134Ser), ExAC rs760032960, TOPMed rs760032960, gnomAD rs760032960, REVEL 0.05, CADD 12.70
- T137I (p.Thr137Ile), Ensembl rs1840390103
- L138M (p.Leu138Met), TOPMed rs1840389873
- L138P (p.Leu138Pro), Ensembl rs751705005
- S141N (p.Ser141Asn), TOPMed rs530354809, REVEL 0.12, CADD 9.78
- G142S (p.Gly142Ser), TOPMed rs1288521878, gnomAD rs1288521878, REVEL 0.47, CADD 26.10
- L143F (p.Leu143Phe), gnomAD rs1293145044, REVEL 0.25, CADD 19.70
- V148G (p.Val148Gly), Ensembl rs1589405596
- V148L (p.Val148Leu), Ensembl rs2132889729
- V149L (p.Val149Leu), NCI-TCGA Cosmic COSV5646, Variant assessed as somatic; moderate impact.
- E150Q (p.Glu150Gln), NCI-TCGA Cosmic COSV9982, Variant assessed as somatic; moderate impact.
- I151F (p.Ile151Phe), gnomAD rs1361321591
- H153N (p.His153Asn), Ensembl rs2132889666
- H154N (p.His154Asn), gnomAD rs1468228026, REVEL 0.17, CADD 23.60
- H155D (p.His155Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S156L (p.Ser156Leu), ESP rs147441567, TOPMed rs147441567, gnomAD rs147441567, REVEL 0.05, CADD 11.90
- E157* (p.Glu157Ter), NCI-TCGA TCGA novel, CADD 36.00, Variant assessed as somatic; high impact.
- E157G (p.Glu157Gly), TOPMed rs1840387776
- V160F (p.Val160Phe), TOPMed rs1417082143, gnomAD rs1417082143, REVEL 0.07, CADD 16.40
- V160G (p.Val160Gly), Ensembl rs1589405569
- H161L (p.His161Leu), Ensembl rs2132889589
- G162D (p.Gly162Asp), gnomAD rs1237908242
- A163T (p.Ala163Thr), TOPMed rs1840387116, REVEL 0.08, CADD 16.50
- M164I (p.Met164Ile), gnomAD rs1435767126
- M164V (p.Met164Val), ExAC rs757167523, gnomAD rs757167523, REVEL 0.06, CADD 15.50
- E165A (p.Glu165Ala), rs142695132, ClinGen CA209440034, ClinVar RCV004485016, ESP rs142695132, REVEL 0.23, CADD 27.20, Uncertain significance, not specified
- V168L (p.Val168Leu), ExAC rs777637150, gnomAD rs777637150, REVEL 0.22, CADD 25.00
- Q169H (p.Gln169His), gnomAD rs1333452007
- T170A (p.Thr170Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T170I (p.Thr170Ile), TOPMed rs1270716103, gnomAD rs1270716103, REVEL 0.09, CADD 17.90
- K172E (p.Lys172Glu), ExAC rs777657488, gnomAD rs777657488, REVEL 0.03, CADD 15.00
Public VSIR analysis runs
- VSIR analysis run — VSIR (586 variants) — completed 2026-08-21