A33D (p.Ala33Asp) variant of CYP27A1 (Q02318)
A33D (p.Ala33Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- gnomAD 2-218782280-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.32
- CADD 12.30
- PolyPhen-2 0.05
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available