R375H (p.Arg375His) variant of CYP19A1 (Aromatase)
R375H (p.Arg375His) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, 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 0.77 / 1. The record also includes population frequency data and structural context.
R375H (p.Arg375His) variant details
- p.Arg375His
- cosmic curated COSV53056
- ExAC rs762631156
- TOPMed rs762631156
- gnomAD rs762631156
- Likely pathogenic
- Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.75
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Aromatase deficiency)
- EBI: Variant of uncertain significance (in dbSNP:rs762631156)
- UniProt: Uncertain significance (in dbSNP:rs762631156)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available