V28L (p.Val28Leu) variant of CYP19A1 (Aromatase)
V28L (p.Val28Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- TOPMed rs1023837164
- gnomAD rs1023837164
- Uncertain significance
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.08
- CADD 5.07
- ClinVar: Uncertain significance (Aromatase deficiency)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available