P12R (p.Pro12Arg) variant of PPP2R5D (Q14738)
P12R (p.Pro12Arg) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- TOPMed rs1306373469
- gnomAD rs1306373469
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -1.00
- CADD 23.30
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available