G36D (p.Gly36Asp) variant of PURA (Q00577)
G36D (p.Gly36Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- gnomAD 5-140114288-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 20.80
- PolyPhen-2 0.06
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available