Q10H (p.Gln10His) variant of PURA (Q00577)
Q10H (p.Gln10His) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- gnomAD 5-140114211-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available