R265G (p.Arg265Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
R265G (p.Arg265Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colon cancer; C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R265G (p.Arg265Gly) variant details
- p.Arg265Gly
- rs63751194
- ClinGen CA352045752
- ClinVar RCV000985789
- ClinVar RCV002416266
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colon cancer; C
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- 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)