A14V (p.Ala14Val) variant of MSH2 (DNA mismatch repair protein Msh2)
A14V (p.Ala14Val) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar 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 0.45 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- Ensembl rs1672233353
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.33
- ESM-1b 0.47
- AlphaMissense 0.14
- MetaLR 0.54
- MetaSVM -0.41
- CADD 21.40
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available