E24E (p.Glu24Glu) variant of CDC73 (Parafibromin)
E24E (p.Glu24Glu) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E24E (p.Glu24Glu) variant details
- p.Glu24Glu
- rs1572139792
- gnomAD 1-193122272-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 15.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available