E9G (p.Glu9Gly) variant of CDK9 (Cyclin-dependent kinase 9)
E9G (p.Glu9Gly) in CDK9 (Cyclin-dependent kinase 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- gnomAD rs566144307
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available