P43L (p.Pro43Leu) variant of CYP3A5 (Cytochrome P450 3A5)
P43L (p.Pro43Leu) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- TOPMed rs1460641728
- gnomAD rs1460641728
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available