P24H (p.Pro24His) variant of PURA (Q00577)
P24H (p.Pro24His) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- gnomAD 5-140114252-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available