G22V (p.Gly22Val) variant of PURA (Q00577)
G22V (p.Gly22Val) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- gnomAD 5-140114246-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available