R127G (p.Arg127Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
R127G (p.Arg127Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R127G (p.Arg127Gly) variant details
- p.Arg127Gly
- rs587779007
- ClinGen CA352038047
- ClinVar RCV002363938
- ClinVar RCV003775734
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 33.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)