A36G (p.Ala36Gly) variant of CDK9 (Cyclin-dependent kinase 9)
A36G (p.Ala36Gly) 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 0.57 / 1. The record also includes population frequency data and structural context.
A36G (p.Ala36Gly) variant details
- p.Ala36Gly
- ExAC rs779167622
- TOPMed rs779167622
- gnomAD rs779167622
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.40
- CADD 29.60
- PolyPhen-2 0.88
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available