E19K (p.Glu19Lys) variant of DIP2B (Q9P265)
E19K (p.Glu19Lys) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- gnomAD 12-50505195-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.73
- CADD 29.40
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available