G16S (p.Gly16Ser) variant of PURA (Q00577)
G16S (p.Gly16Ser) 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.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- gnomAD 5-140114227-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available