E13D (p.Glu13Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
E13D (p.Glu13Asp) in MLH1 (DNA mismatch repair protein Mlh1) is a protein-truncating change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- rs587779013
- ClinGen CA2580614169
- ClinVar RCV002366409
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.73
- CADD 24.50
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)