E9Q (p.Glu9Gln) variant of PURA (Q00577)
E9Q (p.Glu9Gln) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- gnomAD 5-140114206-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.71
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available