E23D (p.Glu23Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
E23D (p.Glu23Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- rs63750555
- ClinGen CA011736
- ClinVar RCV000411283
- ClinVar RCV001025892
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.88
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely 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)