K54E (p.Lys54Glu) variant of XRCC2 (DNA repair protein XRCC2)
K54E (p.Lys54Glu) 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 0.89 / 1. The record also includes published literature and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- rs2116988427
- ClinGen CA370199299
- ClinVar RCV001985939
- ClinVar RCV003170344
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)