G7D (p.Gly7Asp) variant of PURA (Q00577)
G7D (p.Gly7Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- gnomAD 5-140114201-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.84
- CADD 23.60
- PolyPhen-2 0.32
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available