W666R (p.Trp666Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
W666R (p.Trp666Arg) 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 Colorectal cancer, hereditary nonpolyposis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
W666R (p.Trp666Arg) variant details
- p.Trp666Arg
- rs267607887
- ClinGen CA008089
- ClinVar RCV003450265
- UniProt VAR 054538
- Likely pathogenic
- Colorectal cancer, hereditary nonpolyposis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.79
- ClinVar: Likely pathogenic (Colorectal cancer, hereditary nonpolyposis, type 2)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely pathogenic (in LYNCH2)
- Structural context available
- Cited in: A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing… (PMID 18561205)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)