R127K (p.Arg127Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
R127K (p.Arg127Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R127K (p.Arg127Lys) variant details
- p.Arg127Lys
- rs63751595
- ClinGen CA010066
- cosmic curated COSV51614
- ClinVar RCV000075682
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 33.00
- PolyPhen-2 0.10
- SIFT 1.00
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)