D3H (p.Asp3His) variant of PURA (Q00577)
D3H (p.Asp3His) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D3H (p.Asp3His) variant details
- p.Asp3His
- gnomAD 5-140114188-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 24.10
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available