P52L (p.Pro52Leu) variant of PPP2R5D (Q14738)
P52L (p.Pro52Leu) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD rs1561849382
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available