M26I (p.Met26Ile) variant of MSH2 (DNA mismatch repair protein Msh2)
M26I (p.Met26Ile) 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; not provided; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
M26I (p.Met26Ile) variant details
- p.Met26Ile
- rs1672237717
- ClinGen CA346728677
- ClinVar RCV004505566
- ClinVar RCV005632673
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.56
- MetaSVM 0.13
- CADD 25.10
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; not provided; Here)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- 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)