R435C (p.Arg435Cys) variant of CYP19A1 (Aromatase)
R435C (p.Arg435Cys) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R435C (p.Arg435Cys) variant details
- p.Arg435Cys
- rs121434534
- ClinGen CA127454
- ClinVar RCV000019393
- ClinVar RCV000814400
- Pathogenic
- not provided; Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Aromatase deficiency)
- EBI: Pathogenic (in AROD)
- UniProt: Pathogenic (in AROD)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. (PMID 8265607)
- Cited in: Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn… (PMID 24705274)