G22R (p.Gly22Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
G22R (p.Gly22Arg) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs2125694239
- ClinGen CA352060852
- ClinVar RCV004522904
- Ensembl rs2125694239
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance (in dbSNP:rs41295280)
- UniProt: Uncertain significance (in dbSNP:rs41295280)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)