G31D (p.Gly31Asp) variant of PURA (Q00577)
G31D (p.Gly31Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- gnomAD 5-140114273-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available