P12H (p.Pro12His) variant of PPP2R5D (Q14738)
P12H (p.Pro12His) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P12H (p.Pro12His) variant details
- p.Pro12His
- TOPMed rs1306373469
- gnomAD rs1306373469
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.94
- CADD 24.70
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available