T117K (p.Thr117Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
T117K (p.Thr117Lys) 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 Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
T117K (p.Thr117Lys) variant details
- p.Thr117Lys
- rs63750781
- ClinGen CA352037854
- ClinVar RCV002459196
- gnomAD rs63750781
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.78
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Colorectal cancer, here)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- 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)