A539D (p.Ala539Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
A539D (p.Ala539Asp) 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 MLH1-related disorder; Hereditary nonpolyposis colon cancer; Hereditary nonpolyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
A539D (p.Ala539Asp) variant details
- p.Ala539Asp
- rs267607843
- ClinGen CA006121
- ClinVar RCV002397764
- ClinVar RCV002545235
- Likely pathogenic
- MLH1-related disorder; Hereditary nonpolyposis colon cancer; Hereditary nonpolyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (MLH1-related disorder; Hereditary nonpolyposis colon cancer; Her)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing… (PMID 18561205)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)