D41Y (p.Asp41Tyr) variant of MLH1 (DNA mismatch repair protein Mlh1)
D41Y (p.Asp41Tyr) 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; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- rs267607713
- ClinGen CA352035344
- NCI-TCGA Cosmic COSV5161
- NCI-TCGA Cosmic COSV9921
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.92
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely 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)