T42I (p.Thr42Ile) variant of CYP3A5 (Cytochrome P450 3A5)
T42I (p.Thr42Ile) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- rs1374335261
- TOPMed rs1374335261
- gnomAD rs1374335261
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0512
- REVEL 0.03
- CADD 2.73
- PolyPhen-2 0.29
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available