V50I (p.Val50Ile) variant of CYP2C19 (Cytochrome P450 2C19)
V50I (p.Val50Ile) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- ExAC rs748915758
- gnomAD rs748915758
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0785
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -0.96
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.04