I39T (p.Ile39Thr) variant of CYP2C8 (Cytochrome P450 2C8)
I39T (p.Ile39Thr) in CYP2C8 (Cytochrome P450 2C8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- TOPMed rs1335011131
- gnomAD rs1335011131
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.63
- CADD 23.90
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available