P44H (p.Pro44His) variant of PPP2R5D (Q14738)
P44H (p.Pro44His) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P44H (p.Pro44His) variant details
- p.Pro44His
- gnomAD 6-43006488-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.11
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available