D21G (p.Asp21Gly) variant of RAD50 (DNA repair protein RAD50)
D21G (p.Asp21Gly) 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 0.41 / 1. The record also includes published literature and structural context.
D21G (p.Asp21Gly) variant details
- p.Asp21Gly
- rs1554096641
- ClinGen CA360951234
- ClinVar RCV002368772
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.60
- MetaLR 0.05
- MetaSVM -1.20
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.69
- 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)