M26V (p.Met26Val) variant of MSH2 (DNA mismatch repair protein Msh2)
M26V (p.Met26Val) 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 0.60 / 1. The record also includes structural context.
M26V (p.Met26Val) variant details
- p.Met26Val
- rs876660371
- ClinGen CA346728663
- ClinVar RCV000630093
- Ensembl rs876660371
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.56
- MetaSVM 0.09
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available