G19D (p.Gly19Asp) variant of PURA (Q00577)
G19D (p.Gly19Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- gnomAD 5-140114237-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.36
- ESM-1b 0.36
- AlphaMissense 0.21
- CADD 23.30
- PolyPhen-2 0.13
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available