G7C (p.Gly7Cys) variant of PURA (Q00577)
G7C (p.Gly7Cys) 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.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD 5-140114200-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.33
- ESM-1b 0.25
- AlphaMissense 0.81
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available