R3W (p.Arg3Trp) variant of RAD50 (DNA repair protein RAD50)
R3W (p.Arg3Trp) 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 0.35 / 1. The record also includes published literature and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs2149830050
- ClinGen CA360950693
- ClinVar RCV001942880
- Ensembl rs2149830050
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.34
- MetaLR 0.03
- MetaSVM -1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.47
- 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)