R130W (p.Arg130Trp) variant of CYP3A5 (Cytochrome P450 3A5)
R130W (p.Arg130Trp) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R130W (p.Arg130Trp) variant details
- p.Arg130Trp
- TOPMed rs1811090111
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.70
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available