Y97C (p.Tyr97Cys) variant of MLH1 (DNA mismatch repair protein Mlh1)
Y97C (p.Tyr97Cys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y97C (p.Tyr97Cys) variant details
- p.Tyr97Cys
- rs773647920
- ClinGen CA009536
- cosmic curated COSV51621
- ClinVar RCV000163749
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- ESM-1b 1.00
- AlphaMissense 0.69
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)