A281V (p.Ala281Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
A281V (p.Ala281Val) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
A281V (p.Ala281Val) variant details
- p.Ala281Val
- rs63749950
- ClinGen CA012571
- cosmic curated COSV99212
- ClinVar RCV000075883
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.21
- MetaSVM -0.84
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)