E30G (p.Glu30Gly) variant of DIP2B (Q9P265)
E30G (p.Glu30Gly) in DIP2B (Q9P265) is a missense 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.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- gnomAD 12-50505229-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.24
- MetaLR 0.19
- MetaSVM -0.68
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available