P46R (p.Pro46Arg) variant of PPP2R5D (Q14738)
P46R (p.Pro46Arg) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P46R (p.Pro46Arg) variant details
- p.Pro46Arg
- gnomAD 6-43006494-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.06
- CADD 17.60
- 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