P40R (p.Pro40Arg) variant of PPP2R5D (Q14738)
P40R (p.Pro40Arg) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P40R (p.Pro40Arg) variant details
- p.Pro40Arg
- gnomAD 6-43006476-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.06
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available