P40L (p.Pro40Leu) variant of PPP2R5D (Q14738)
P40L (p.Pro40Leu) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- gnomAD rs1360349628
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available