N54S (p.Asn54Ser) variant of CDK9 (Cyclin-dependent kinase 9)
N54S (p.Asn54Ser) in CDK9 (Cyclin-dependent kinase 9) is a missense change. 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.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- TOPMed rs1829329177
- gnomAD rs1829329177
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available