L133P (p.Leu133Pro) variant of CYP3A5 (Cytochrome P450 3A5)
L133P (p.Leu133Pro) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L133P (p.Leu133Pro) variant details
- p.Leu133Pro
- TOPMed rs1383200930
- gnomAD rs1383200930
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available