L20F (p.Leu20Phe) variant of CYP27A1 (Q02318)
L20F (p.Leu20Phe) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- gnomAD 2-218782240-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available