A2A (p.Ala2Ala) variant of CDC73 (Parafibromin)
A2A (p.Ala2Ala) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1477227787
- gnomAD 1-193122206-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available