L7V (p.Leu7Val) variant of MSH6 (DNA mismatch repair protein Msh6)
L7V (p.Leu7Val) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs1064795094
- ClinGen CA346734493
- NCI-TCGA Cosmic COSV9931
- ClinVar RCV000547511
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.39
- MetaLR 0.45
- MetaSVM -0.38
- CADD 20.80
- PolyPhen-2 0.12
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)