A2S (p.Ala2Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
A2S (p.Ala2Ser) 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 Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- ExAC rs63750466
- TOPMed rs63750466
- gnomAD rs63750466
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.56
- ESM-1b 0.24
- AlphaMissense 0.35
- MetaLR 0.81
- MetaSVM 0.54
- CADD 28.80
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign (in LYNCH1)
- UniProt: Likely benign (in LYNCH1)
- Population evidence available
- Structural context available