G16R (p.Gly16Arg) variant of RAD50 (DNA repair protein RAD50)
G16R (p.Gly16Arg) 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 0.42 / 1. The record also includes published literature and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs1750020437
- TOPMed rs1750020437
- ClinGen CA360951017
- ClinVar RCV002335305
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.99
- MetaLR 0.06
- MetaSVM -1.19
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.82
- 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)