M26L (p.Met26Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
M26L (p.Met26Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M26L (p.Met26Leu) variant details
- p.Met26Leu
- rs876660371
- Ensembl rs876660371
- ClinGen CA10577915
- ClinVar RCV000214711
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.56
- MetaSVM 0.09
- CADD 21.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- 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)