A30V (p.Ala30Val) variant of CYP2D6 (Cytochrome P450 2D6)
A30V (p.Ala30Val) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- TOPMed rs1377921514
- gnomAD rs1377921514
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 18.90
- PolyPhen-2 0.37
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available