G11D (p.Gly11Asp) variant of PURA (Q00577)
G11D (p.Gly11Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- gnomAD 5-140114213-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.61
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available