L35I (p.Leu35Ile) variant of CYP27A1 (Q02318)
L35I (p.Leu35Ile) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L35I (p.Leu35Ile) variant details
- p.Leu35Ile
- gnomAD 2-218782285-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.06
- CADD 8.01
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available