C77R (p.Cys77Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
C77R (p.Cys77Arg) 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 0.96 / 1. The record also includes published literature and structural context.
C77R (p.Cys77Arg) variant details
- p.Cys77Arg
- rs63749859
- ClinGen CA009324
- ClinVar RCV000075596
- ClinVar RCV000220766
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.83
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. Online. (PMID 10660333)
- Cited in: Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. (PMID 11793442)