G32E (p.Gly32Glu) variant of PURA (Q00577)
G32E (p.Gly32Glu) 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, published literature, and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- gnomAD 5-140114276-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available