A28D (p.Ala28Asp) variant of CYP11B1 (P15538)
A28D (p.Ala28Asp) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- ExAC rs749211518
- gnomAD rs749211518
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.27
- AlphaMissense 0.13
- MetaLR 0.63
- MetaSVM -0.27
- CADD 18.00
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available