G42V (p.Gly42Val) variant of CDK9 (Cyclin-dependent kinase 9)
G42V (p.Gly42Val) in CDK9 (Cyclin-dependent kinase 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- ExAC rs747453571
- TOPMed rs747453571
- gnomAD rs747453571
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.15
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available