G11C (p.Gly11Cys) variant of PURA (Q00577)
G11C (p.Gly11Cys) 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.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 5-140114212-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.54
- ESM-1b 0.32
- AlphaMissense 0.45
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available