E599D (p.Glu599Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
E599D (p.Glu599Asp) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E599D (p.Glu599Asp) variant details
- p.Glu599Asp
- rs1297804471
- ClinGen CA352064736
- ClinVar RCV001222665
- ClinVar RCV002402685
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Colorectal cancer, here)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.038)
- 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)