A25D (p.Ala25Asp) variant of CYP27A1 (Q02318)
A25D (p.Ala25Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- gnomAD 2-218782256-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.54
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available