R130Q (p.Arg130Gln) variant of CYP3A5 (Cytochrome P450 3A5)
R130Q (p.Arg130Gln) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R130Q (p.Arg130Gln) variant details
- p.Arg130Gln
- ExAC rs758037875
- TOPMed rs758037875
- gnomAD rs758037875
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.80
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available