E210K (p.Glu210Lys) variant of CYP19A1 (Aromatase)
E210K (p.Glu210Lys) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aromatase excess syndrome; Aromatase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E210K (p.Glu210Lys) variant details
- p.Glu210Lys
- rs121434538
- ClinGen CA127462
- cosmic curated COSV10807
- ClinVar RCV000019404
- Pathogenic
- Aromatase excess syndrome; Aromatase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.61
- CADD 62.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Aromatase excess syndrome; Aromatase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and… (PMID 14715828)