S30F (p.Ser30Phe) variant of CDK12 (Cyclin-dependent kinase 12)
S30F (p.Ser30Phe) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- cosmic curated COSV71000
- TOPMed rs1021399334
- gnomAD rs1021399334
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.16
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available