L50F (p.Leu50Phe) variant of CYP1A2 (Cytochrome P450 1A2)
L50F (p.Leu50Phe) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- TOPMed rs1393868624
- gnomAD rs1393868624
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.08
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available