A31V (p.Ala31Val) variant of CYP2D6 (Cytochrome P450 2D6)
A31V (p.Ala31Val) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- ExAC rs765912784
- gnomAD rs765912784
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 21.90
- PolyPhen-2 0.39
- SIFT 0.03
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available