E35G (p.Glu35Gly) variant of PPP2R5D (Q14738)
E35G (p.Glu35Gly) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E35G (p.Glu35Gly) variant details
- p.Glu35Gly
- gnomAD 6-42989687-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.22
- MetaLR 0.06
- MetaSVM -1.13
- CADD 33.00
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available