P49A (p.Pro49Ala) variant of CYP1A2 (Cytochrome P450 1A2)
P49A (p.Pro49Ala) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- gnomAD rs946281188
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.72
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available