G18D (p.Gly18Asp) variant of PURA (Q00577)
G18D (p.Gly18Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- gnomAD 5-140114234-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.36
- ESM-1b 0.74
- AlphaMissense 0.27
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available