R182G (p.Arg182Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
R182G (p.Arg182Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R182G (p.Arg182Gly) variant details
- p.Arg182Gly
- rs63750211
- ClinGen CA010872
- ClinVar RCV000075747
- ClinVar RCV000570187
- Likely benign
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.86
- MetaSVM 0.89
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely benign (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis… (PMID 10480359)
- Cited in: Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. (PMID 9399661)