V3G (p.Val3Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
V3G (p.Val3Gly) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V3G (p.Val3Gly) variant details
- p.Val3Gly
- rs1573422534
- ClinGen CA346728410
- ClinVar RCV003988390
- Ensembl rs1573422534
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.59
- ESM-1b 0.53
- AlphaMissense 0.43
- MetaLR 0.69
- MetaSVM 0.23
- CADD 23.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available