E9A (p.Glu9Ala) variant of CDK9 (Cyclin-dependent kinase 9)
E9A (p.Glu9Ala) in CDK9 (Cyclin-dependent kinase 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
E9A (p.Glu9Ala) variant details
- p.Glu9Ala
- gnomAD rs566144307
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.29
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available