I47T (p.Ile47Thr) variant of CYP19A1 (Aromatase)
I47T (p.Ile47Thr) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I47T (p.Ile47Thr) variant details
- p.Ile47Thr
- TOPMed rs2033846593
- Uncertain significance
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.68
- CADD 23.80
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Uncertain significance (Aromatase deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available