G32W (p.Gly32Trp) variant of PURA (Q00577)
G32W (p.Gly32Trp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G32W (p.Gly32Trp) variant details
- p.Gly32Trp
- Ensembl rs1763036665
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 23.40
- PolyPhen-2 0.46
- SIFT 0.01
- Population evidence available
- Structural context available