K25E (p.Lys25Glu) variant of XRCC2 (DNA repair protein XRCC2)
K25E (p.Lys25Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K25E (p.Lys25Glu) variant details
- p.Lys25Glu
- rs2116999624
- ClinGen CA370199496
- ClinVar RCV004521386
- Ensembl rs2116999624
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.91
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- 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)