D49V (p.Asp49Val) variant of CYP2C9 (Cytochrome P450 2C9)
D49V (p.Asp49Val) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D49V (p.Asp49Val) variant details
- p.Asp49Val
- ExAC rs564813580
- TOPMed rs564813580
- gnomAD rs564813580
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.17
- CADD 18.80
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available