K24R (p.Lys24Arg) variant of CDK9 (Cyclin-dependent kinase 9)
K24R (p.Lys24Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- rs146765767
- ClinGen CA200314047
- ClinVar RCV004114168
- ESP rs146765767
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available