D5E (p.Asp5Glu) variant of PURA (Q00577)
D5E (p.Asp5Glu) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- gnomAD 5-140114196-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.64
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available