D3E (p.Asp3Glu) variant of PURA (Q00577)
D3E (p.Asp3Glu) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- gnomAD 5-140114190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.66
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available