H54R (p.His54Arg) variant of CYP3A4 (Cytochrome P450 3A4)
H54R (p.His54Arg) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
H54R (p.His54Arg) variant details
- p.His54Arg
- ExAC rs779806677
- TOPMed rs779806677
- gnomAD rs779806677
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)