A2D (p.Ala2Asp) variant of CYP27A1 (Q02318)
A2D (p.Ala2Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 2-218782187-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.35
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available