L20I (p.Leu20Ile) variant of CYP27A1 (Q02318)
L20I (p.Leu20Ile) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L20I (p.Leu20Ile) variant details
- p.Leu20Ile
- gnomAD 2-218782240-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available