C77Y (p.Cys77Tyr) variant of MLH1 (DNA mismatch repair protein Mlh1)
C77Y (p.Cys77Tyr) 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.
C77Y (p.Cys77Tyr) variant details
- p.Cys77Tyr
- rs63750437
- ClinGen CA009334
- ClinVar RCV000075598
- ClinVar RCV000562335
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.86
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Structural context available
- Cited in: Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. (PMID 9032648)
- Cited in: Missense mutations in hMLH1 associated with colorectal cancer. (PMID 10598809)