R755G (p.Arg755Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
R755G (p.Arg755Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R755G (p.Arg755Gly) variant details
- p.Arg755Gly
- rs267607900
- ClinGen CA350722
- ClinVar RCV000206724
- Ensembl rs267607900
- Pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in HNPCC)
- UniProt: Pathogenic (in HNPCC)
- 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)