Y130C (p.Tyr130Cys) variant of MLH1 (DNA mismatch repair protein Mlh1)
Y130C (p.Tyr130Cys) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y130C (p.Tyr130Cys) variant details
- p.Tyr130Cys
- rs587779011
- ClinGen CA010202
- cosmic curated COSV10585
- ClinVar RCV002366385
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)