E8E (p.Glu8Glu) variant of PPP2R5D (Q14738)
E8E (p.Glu8Glu) in PPP2R5D (Q14738) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- gnomAD 6-42984701-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available