G18C (p.Gly18Cys) variant of PURA (Q00577)
G18C (p.Gly18Cys) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 5-140114233-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.44
- ESM-1b 0.46
- AlphaMissense 0.14
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available