T34L (p.Thr34Leu) variant of CYP2C19 (Cytochrome P450 2C19)
T34L (p.Thr34Leu) in CYP2C19 (Cytochrome P450 2C19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T34L (p.Thr34Leu) variant details
- p.Thr34Leu
- gnomAD 10-94762800-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 13.70
- Population evidence available
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.953
- Literature evidence available