E3K (p.Glu3Lys) variant of DIP2B (Q9P265)
E3K (p.Glu3Lys) in DIP2B (Q9P265) 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.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD 12-50505147-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.21
- MetaLR 0.05
- MetaSVM -1.01
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available