I50T (p.Ile50Thr) variant of CYP3A4 (Cytochrome P450 3A4)
I50T (p.Ile50Thr) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I50T (p.Ile50Thr) variant details
- p.Ile50Thr
- ESP rs374028591
- ExAC rs374028591
- gnomAD rs374028591
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 8.30
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available