V51D (p.Val51Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
V51D (p.Val51Asp) 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 cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
V51D (p.Val51Asp) variant details
- p.Val51Asp
- rs1553638767
- ClinGen CA352035399
- ClinVar RCV001176427
- ClinVar RCV001249948
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.70
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)