E30K (p.Glu30Lys) variant of DIP2B (Q9P265)
E30K (p.Glu30Lys) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- gnomAD 12-50505228-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.26
- MetaLR 0.23
- MetaSVM -0.52
- CADD 27.00
- PolyPhen-2 0.75
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available