D21H (p.Asp21His) variant of RAD50 (DNA repair protein RAD50)
D21H (p.Asp21His) 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 0.30 / 1. The record also includes published literature and structural context.
D21H (p.Asp21His) variant details
- p.Asp21His
- rs1750021195
- ClinGen CA360951224
- ClinVar RCV003302133
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.14
- MetaLR 0.02
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.50
- EVE 0.29
- 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)