A27D (p.Ala27Asp) variant of CYP27A1 (Q02318)
A27D (p.Ala27Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 2-218782262-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.36
- CADD 25.80
- PolyPhen-2 0.64
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available