E9D (p.Glu9Asp) variant of PURA (Q00577)
E9D (p.Glu9Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- gnomAD 5-140114208-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available