D19D (p.Asp19Asp) variant of RAD50 (DNA repair protein RAD50)
D19D (p.Asp19Asp) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D19D (p.Asp19Asp) variant details
- p.Asp19Asp
- rs1388089645
- gnomAD 5-132557381-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 12.80
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available