R226Q (p.Arg226Gln) variant of MLH1 (DNA mismatch repair protein Mlh1)
R226Q (p.Arg226Gln) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R226Q (p.Arg226Gln) variant details
- p.Arg226Gln
- rs63751711
- ClinGen CA011583
- NCI-TCGA Cosmic COSV5161
- cosmic curated COSV51619
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.78
- MetaSVM 0.67
- CADD 43.00
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- 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)