Y81C (p.Tyr81Cys) variant of CYP19A1 (Aromatase)
Y81C (p.Tyr81Cys) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aromatase deficiency; not specified; Aromatase excess syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y81C (p.Tyr81Cys) variant details
- p.Tyr81Cys
- rs199845027
- ClinGen CA7560127
- ClinVar RCV001120306
- ClinVar RCV002249731
- Conflicting interpretations
- Aromatase deficiency; not specified; Aromatase excess syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.85
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Aromatase deficiency; not specified; Aromatase excess syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available