S24P (p.Ser24Pro) variant of CDK12 (Cyclin-dependent kinase 12)
S24P (p.Ser24Pro) in CDK12 (Cyclin-dependent kinase 12) 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 0.43 / 1. The record also includes population frequency data and structural context.
S24P (p.Ser24Pro) variant details
- p.Ser24Pro
- ExAC rs753244792
- TOPMed rs753244792
- gnomAD rs753244792
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.28
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available