G58R (p.Gly58Arg) variant of CDK9 (Cyclin-dependent kinase 9)
G58R (p.Gly58Arg) 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 0.74 / 1. The record also includes population frequency data and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs149950953
- ClinGen CA5251620
- ClinVar RCV004430945
- ESP rs149950953
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available