A13A (p.Ala13Ala) variant of PURA (Q00577)
A13A (p.Ala13Ala) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- gnomAD 5-140114220-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available