A2G (p.Ala2Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
A2G (p.Ala2Gly) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LYNCH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- cosmic curated COSV51878
- TOPMed rs587778521
- gnomAD rs587778521
- Uncertain significance
- in LYNCH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- ESM-1b 1.00
- AlphaMissense 0.47
- EBI: Variant of uncertain significance (in LYNCH1)
- UniProt: Uncertain significance (in LYNCH1)
- Structural context available