E7Q (p.Glu7Gln) variant of DIP2B (Q9P265)
E7Q (p.Glu7Gln) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- 1000Genomes rs1016840774
- TOPMed rs1016840774
- gnomAD rs1016840774
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.04
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available