E23* (p.Glu23Ter) variant of MLH1 (DNA mismatch repair protein Mlh1)
E23* (p.Glu23Ter) in MLH1 (DNA mismatch repair protein Mlh1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- rs63750823
- ClinGen CA011669
- ClinVar RCV000075822
- ClinVar RCV000160551
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- MutPred 0.86
- 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)