G34D (p.Gly34Asp) variant of PURA (Q00577)
G34D (p.Gly34Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- gnomAD 5-140114282-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 23.70
- PolyPhen-2 0.93
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available