R13Q (p.Arg13Gln) variant of RAD50 (DNA repair protein RAD50)
R13Q (p.Arg13Gln) 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 0.51 / 1. The record also includes published literature and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs1750020062
- ClinGen CA360950936
- ClinVar RCV002357458
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 1.00
- MetaLR 0.17
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- 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)