T14S (p.Thr14Ser) variant of CYP19A1 (Aromatase)
T14S (p.Thr14Ser) in CYP19A1 (Aromatase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T14S (p.Thr14Ser) variant details
- p.Thr14Ser
- TOPMed rs916256444
- gnomAD rs916256444
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.25
- CADD 20.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available