A14A (p.Ala14Ala) variant of PURA (Q00577)
A14A (p.Ala14Ala) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1350220385
- gnomAD 5-140114223-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available