A13S (p.Ala13Ser) variant of PURA (Q00577)
A13S (p.Ala13Ser) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 5-140114218-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available