A15G (p.Ala15Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
A15G (p.Ala15Gly) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- ExAC rs776671839
- gnomAD rs776671839
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.69
- MetaSVM 0.41
- CADD 23.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available