L35F (p.Leu35Phe) variant of CYP27A1 (Q02318)
L35F (p.Leu35Phe) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L35F (p.Leu35Phe) variant details
- p.Leu35Phe
- gnomAD 2-218782285-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.08
- CADD 8.45
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available