R435H (p.Arg435His) variant of CYP19A1 (Aromatase)
R435H (p.Arg435His) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R435H (p.Arg435His) variant details
- p.Arg435His
- ExAC rs750452858
- TOPMed rs750452858
- gnomAD rs750452858
- Likely pathogenic
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Aromatase deficiency)
- UniProt: Likely pathogenic (in AROD)
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available