E632D (p.Glu632Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
E632D (p.Glu632Asp) 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; Colorectal cancer, hereditary nonpolypo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
E632D (p.Glu632Asp) variant details
- p.Glu632Asp
- rs63751632
- ClinGen CA352065416
- ClinVar RCV002408114
- ClinVar RCV002467461
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- ESM-1b 0.00
- AlphaMissense 0.09
- MutPred 0.32
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Colorectal cancer, here)
- 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)