P59L (p.Pro59Leu) variant of PPP2R5D (Q14738)
P59L (p.Pro59Leu) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- gnomAD 6-43006533-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available