P34A (p.Pro34Ala) variant of CYP2A6 (Cytochrome P450 2A6)
P34A (p.Pro34Ala) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- TOPMed rs1192695447
- gnomAD rs1192695447
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available