P11H (p.Pro11His) variant of PPP2R5D (Q14738)
P11H (p.Pro11His) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- TOPMed rs1439101816
- gnomAD rs1439101816
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.93
- CADD 21.70
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available