E29E (p.Glu29Glu) variant of CDC73 (Parafibromin)
E29E (p.Glu29Glu) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E29E (p.Glu29Glu) variant details
- p.Glu29Glu
- rs752004076
- gnomAD 1-193122287-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 13.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available