E19K (p.Glu19Lys) variant of XRCC2 (DNA repair protein XRCC2)
E19K (p.Glu19Lys) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs766826828
- ClinGen CA4582410
- ClinVar RCV002344886
- ClinVar RCV003096805
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.14
- MetaLR 0.22
- MetaSVM -0.80
- CADD 25.50
- PolyPhen-2 0.63
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)