A36D (p.Ala36Asp) variant of CDK9 (Cyclin-dependent kinase 9)
A36D (p.Ala36Asp) 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 0.78 / 1. The record also includes population frequency data and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- ExAC rs779167622
- TOPMed rs779167622
- gnomAD rs779167622
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.76
- CADD 28.60
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available