A13E (p.Ala13Glu) variant of PURA (Q00577)
A13E (p.Ala13Glu) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- gnomAD 5-140114219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available