E13* (p.Glu13Ter) variant of MLH1 (DNA mismatch repair protein Mlh1)
E13* (p.Glu13Ter) in MLH1 (DNA mismatch repair protein Mlh1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, published literature, and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs587779008
- ClinGen CA010022
- ClinVar RCV000075677
- ClinVar RCV000162469
- Pathogenic
- Stop Gained
- MutPred 0.36
- 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)