P34A (p.Pro34Ala) variant of CYP2B6 (Cytochrome P450 2B6)
P34A (p.Pro34Ala) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- gnomAD rs1439384152
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.00
- CADD 18.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available