E39R (p.Glu39Arg) variant of CYP11B1 (P15538)
E39R (p.Glu39Arg) in CYP11B1 (P15538) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E39R (p.Glu39Arg) variant details
- p.Glu39Arg
- gnomAD 8-142875371-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 1.22
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available