E13G (p.Glu13Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
E13G (p.Glu13Gly) 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 0.78 / 1. The record also includes published literature and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- rs1575376099
- ClinGen CA352060582
- ClinVar RCV001021384
- ClinVar RCV003758987
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- ESM-1b 1.00
- AlphaMissense 0.49
- MutPred 0.42
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)