E39Q (p.Glu39Gln) variant of CYP11B1 (P15538)
E39Q (p.Glu39Gln) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- 1000Genomes rs1817085799
- TOPMed rs1817085799
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.23
- CADD 20.80
- PolyPhen-2 0.74
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available