G16C (p.Gly16Cys) variant of PURA (Q00577)
G16C (p.Gly16Cys) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD 5-140114227-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- ESM-1b 0.59
- AlphaMissense 0.16
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available