E8G (p.Glu8Gly) variant of PPP2R5D (Q14738)
E8G (p.Glu8Gly) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- gnomAD 6-42984700-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -0.90
- CADD 31.00
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available