E84D (p.Glu84Asp) variant of CYP17A1 (P05093)
E84D (p.Glu84Asp) in CYP17A1 (P05093) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E84D (p.Glu84Asp) variant details
- p.Glu84Asp
- ExAC rs770800801
- gnomAD rs770800801
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.61
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available