A7E (p.Ala7Glu) variant of CYP27A1 (Q02318)
A7E (p.Ala7Glu) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- gnomAD 2-218782202-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.27
- CADD 16.60
- PolyPhen-2 0.09
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available