E7V (p.Glu7Val) variant of DIP2B (Q9P265)
E7V (p.Glu7Val) 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.
E7V (p.Glu7Val) variant details
- p.Glu7Val
- gnomAD 12-50505160-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.21
- MetaLR 0.03
- MetaSVM -1.06
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available