A2E (p.Ala2Glu) variant of DIP2B (Q9P265)
A2E (p.Ala2Glu) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 12-50505145-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.01
- CADD 23.50
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available