S14N (p.Ser14Asn) variant of CDK12 (Cyclin-dependent kinase 12)
S14N (p.Ser14Asn) 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 0.36 / 1. The record also includes population frequency data and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- TOPMed rs1295914423
- gnomAD rs1295914423
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.18
- CADD 23.10
- PolyPhen-2 0.64
- SIFT 0.58
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available