E23K (p.Glu23Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
E23K (p.Glu23Lys) 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 cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs63750823
- ClinGen CA011662
- ClinVar RCV001221485
- ClinVar RCV004019105
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- 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)