D23D (p.Asp23Asp) variant of CDC73 (Parafibromin)
D23D (p.Asp23Asp) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D23D (p.Asp23Asp) variant details
- p.Asp23Asp
- rs1675465120
- gnomAD 1-193122269-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 12.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available