G34V (p.Gly34Val) variant of PURA (Q00577)
G34V (p.Gly34Val) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- gnomAD 5-140114282-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available