E39K (p.Glu39Lys) variant of CYP11B1 (P15538)
E39K (p.Glu39Lys) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- 1000Genomes rs1817085799
- TOPMed rs1817085799
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available