E58A (p.Glu58Ala) variant of CYP11B1 (P15538)
E58A (p.Glu58Ala) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E58A (p.Glu58Ala) variant details
- p.Glu58Ala
- ExAC rs754364294
- gnomAD rs754364294
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available