L11V (p.Leu11Val) variant of MSH2 (DNA mismatch repair protein Msh2)
L11V (p.Leu11Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs2103868361
- ClinGen CA346728491
- ClinVar RCV002322972
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- ESM-1b 0.61
- AlphaMissense 0.11
- MetaLR 0.56
- MetaSVM -0.28
- PolyPhen-2 0.12
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)