A43D (p.Ala43Asp) variant of CYP27A1 (Q02318)
A43D (p.Ala43Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A43D (p.Ala43Asp) variant details
- p.Ala43Asp
- ExAC rs759232939
- TOPMed rs759232939
- gnomAD rs759232939
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available