R182K (p.Arg182Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
R182K (p.Arg182Lys) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
R182K (p.Arg182Lys) variant details
- p.Arg182Lys
- rs587779021
- ClinGen CA010950
- ClinVar RCV000075753
- ClinVar RCV001854303
- Conflicting interpretations
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.54
- MetaSVM -0.15
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of… (PMID 14635101)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)