D3G (p.Asp3Gly) variant of PURA (Q00577)
D3G (p.Asp3Gly) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- gnomAD 5-140114189-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available