S25A (p.Ser25Ala) variant of CDK12 (Cyclin-dependent kinase 12)
S25A (p.Ser25Ala) 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 0.25 / 1. The record also includes population frequency data and structural context.
S25A (p.Ser25Ala) variant details
- p.Ser25Ala
- Ensembl rs2144848153
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.81
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available