D3Y (p.Asp3Tyr) variant of PURA (Q00577)
D3Y (p.Asp3Tyr) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- gnomAD 5-140114188-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available