T14N (p.Thr14Asn) variant of CYP19A1 (Aromatase)
T14N (p.Thr14Asn) 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 0.51 / 1. The record also includes population frequency data and structural context.
T14N (p.Thr14Asn) variant details
- p.Thr14Asn
- TOPMed rs916256444
- gnomAD rs916256444
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.35
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available