A15P (p.Ala15Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
A15P (p.Ala15Pro) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- TOPMed rs1183892581
- gnomAD rs1183892581
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.34
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available