p.Pro44 Gln47del variant of PPP2R5D (Q14738)
p.Pro44 Gln47del in PPP2R5D (Q14738) 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.
p.Pro44 Gln47del variant details
- gnomAD 6-43006463-GCCCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available