A22E (p.Ala22Glu) variant of DIP2B (Q9P265)
A22E (p.Ala22Glu) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- gnomAD 12-50505205-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- MetaLR 0.04
- MetaSVM -1.03
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available