L29H (p.Leu29His) variant of CYP2C19 (Cytochrome P450 2C19)
L29H (p.Leu29His) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L29H (p.Leu29His) variant details
- p.Leu29His
- gnomAD 10-94762791-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.95
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.954
- Literature evidence available