G29D (p.Gly29Asp) variant of PURA (Q00577)
G29D (p.Gly29Asp) 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.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- gnomAD 5-140114267-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available