G35D (p.Gly35Asp) variant of PURA (Q00577)
G35D (p.Gly35Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- gnomAD 5-140114285-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available