E34A (p.Glu34Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
E34A (p.Glu34Ala) 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 Colorectal cancer, hereditary nonpolyposis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
E34A (p.Glu34Ala) variant details
- p.Glu34Ala
- rs63750044
- ClinGen CA72786649
- ClinVar RCV003450210
- Ensembl rs63750044
- Likely pathogenic
- Colorectal cancer, hereditary nonpolyposis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Colorectal cancer, hereditary nonpolyposis, type 2)
- 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)