G22E (p.Gly22Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
G22E (p.Gly22Glu) 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 1.00 / 1. The record also includes published literature and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- rs41295280
- ClinGen CA352060859
- ClinVar RCV002638286
- ClinVar RCV003162082
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign (in dbSNP:rs41295280)
- UniProt: Benign (in dbSNP:rs41295280)
- 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)