L17F (p.Leu17Phe) variant of CYP2C19 (Cytochrome P450 2C19)
L17F (p.Leu17Phe) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- gnomAD 10-94762754-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- MetaLR 0.19
- MetaSVM -1.00
- CADD 11.80
- PolyPhen-2 0.07
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.13
- Literature evidence available