M26K (p.Met26Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
M26K (p.Met26Lys) 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 cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
M26K (p.Met26Lys) variant details
- p.Met26Lys
- rs1573423213
- ClinGen CA346728667
- ClinVar RCV003032999
- ClinVar RCV005662562
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.70
- MetaSVM 0.52
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)