A2P (p.Ala2Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
A2P (p.Ala2Pro) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in LYNCH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- ExAC rs63750466
- TOPMed rs63750466
- gnomAD rs63750466
- Likely benign
- in LYNCH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.70
- EBI: Likely benign (in LYNCH1)
- UniProt: Likely benign (in LYNCH1)
- Structural context available