L57V (p.Leu57Val) variant of CYP2C19 (Cytochrome P450 2C19)
L57V (p.Leu57Val) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- ExAC rs771508729
- gnomAD rs771508729
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.18
- MetaLR 0.30
- MetaSVM -0.74
- CADD 10.80
- PolyPhen-2 0.07
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.903