A29D (p.Ala29Asp) variant of CYP27A1 (Q02318)
A29D (p.Ala29Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- gnomAD 2-218782268-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.15
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available