E3V (p.Glu3Val) variant of DIP2B (Q9P265)
E3V (p.Glu3Val) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD 12-50505148-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.01
- CADD 25.10
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available