E74D (p.Glu74Asp) variant of CYP11B1 (P15538)
E74D (p.Glu74Asp) in CYP11B1 (P15538) 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 0.43 / 1. The record also includes population frequency data and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- 1000Genomes rs200096159
- ExAC rs200096159
- TOPMed rs200096159
- gnomAD rs200096159
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.26
- CADD 14.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available