A2A (p.Ala2Ala) variant of PURA (Q00577)
A2A (p.Ala2Ala) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1763034347
- gnomAD 5-140114187-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 16.10
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available