I96N (p.Ile96Asn) variant of CYP19A1 (Aromatase)
I96N (p.Ile96Asn) 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 record also includes structural context.
I96N (p.Ile96Asn) variant details
- p.Ile96Asn
- ExAC rs761254132
- gnomAD rs761254132
- Uncertain significance
- Aromatase deficiency
- Missense
- ClinVar: Uncertain significance (Aromatase deficiency)
- UniProt: Uncertain significance
- Structural context available