L13M (p.Leu13Met) variant of CYP27A1 (Q02318)
L13M (p.Leu13Met) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 2-218782219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.26
- CADD 24.70
- PolyPhen-2 0.69
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available