D21E (p.Asp21Glu) variant of RAD50 (DNA repair protein RAD50)
D21E (p.Asp21Glu) 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; Nijmegen breakage syndrome-like disorde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- rs545546432
- ClinGen CA3404883
- ClinVar RCV000459402
- ClinVar RCV004568014
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrome-like disorde
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 24.30
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Nijmegen breakage syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- 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)