A30E (p.Ala30Glu) variant of CYP27A1 (Q02318)
A30E (p.Ala30Glu) in CYP27A1 (Q02318) 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, published literature, and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- gnomAD 2-218782271-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.17
- CADD 19.70
- PolyPhen-2 0.05
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available