K20E (p.Lys20Glu) variant of RAD50 (DNA repair protein RAD50)
K20E (p.Lys20Glu) in RAD50 (DNA repair protein RAD50) 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 0.32 / 1. The record also includes published literature and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- rs1580974425
- ClinGen CA360951153
- ClinVar RCV001024661
- Ensembl rs1580974425
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.23
- MetaLR 0.05
- MetaSVM -1.07
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.51
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)