I8R (p.Ile8Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
I8R (p.Ile8Arg) 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 published literature and structural context.
I8R (p.Ile8Arg) variant details
- p.Ile8Arg
- rs2470598661
- ClinGen CA2586971866
- ClinVar RCV003452387
- Pathogenic
- Frameshift
- 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)