F34I (p.Phe34Ile) variant of CDK9 (Cyclin-dependent kinase 9)
F34I (p.Phe34Ile) in CDK9 (Cyclin-dependent kinase 9) is a missense change. Clinical records from ClinVar 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 0.63 / 1. The record also includes population frequency data and structural context.
F34I (p.Phe34Ile) variant details
- p.Phe34Ile
- TOPMed rs1829328270
- gnomAD rs1829328270
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.61
- CADD 28.80
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available