A12E (p.Ala12Glu) variant of DIP2B (Q9P265)
A12E (p.Ala12Glu) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- 1000Genomes rs201679381
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.25
- MetaLR 0.02
- MetaSVM -0.99
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available