V19V (p.Val19Val) variant of CDC73 (Parafibromin)
V19V (p.Val19Val) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V19V (p.Val19Val) variant details
- p.Val19Val
- gnomAD 1-193122257-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available