A111V (p.Ala111Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
A111V (p.Ala111Val) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A111V (p.Ala111Val) variant details
- p.Ala111Val
- rs63750539
- ClinGen CA009815
- ClinVar RCV000075658
- ClinVar RCV000627728
- Likely pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.87
- ClinVar: Likely pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis… (PMID 10777691)
- Cited in: Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). (PMID 16451135)