A2E (p.Ala2Glu) variant of CDK9 (Cyclin-dependent kinase 9)
A2E (p.Ala2Glu) in CDK9 (Cyclin-dependent kinase 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs758230646
- gnomAD rs758230646
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.16
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available