G19V (p.Gly19Val) variant of PURA (Q00577)
G19V (p.Gly19Val) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 5-140114237-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available