E23G (p.Glu23Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
E23G (p.Glu23Gly) 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 Breast and/or ovarian cancer; Hereditary nonpolyposis colorectal neoplasms; Here. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- rs750969880
- ClinGen CA037916
- ClinVar RCV001025779
- ClinVar RCV001366114
- Uncertain significance
- Breast and/or ovarian cancer; Hereditary nonpolyposis colorectal neoplasms; Here
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 33.00
- PolyPhen-2 0.75
- SIFT 0.04
- ClinVar: Uncertain significance (Breast and/or ovarian cancer; Hereditary nonpolyposis colorectal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- 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)