G18A (p.Gly18Ala) variant of PURA (Q00577)
G18A (p.Gly18Ala) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- gnomAD 5-140114234-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available