P46S (p.Pro46Ser) variant of PPP2R5D (Q14738)
P46S (p.Pro46Ser) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- gnomAD 6-43006493-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.05
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available