G25C (p.Gly25Cys) variant of PURA (Q00577)
G25C (p.Gly25Cys) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G25C (p.Gly25Cys) variant details
- p.Gly25Cys
- gnomAD 5-140114254-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available