N49T (p.Asn49Thr) variant of CYP3A4 (Cytochrome P450 3A4)
N49T (p.Asn49Thr) in CYP3A4 (Cytochrome P450 3A4) 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 0.27 / 1. The record also includes population frequency data.
N49T (p.Asn49Thr) variant details
- p.Asn49Thr
- rs1259521795
- TOPMed rs1259521795
- gnomAD rs1259521795
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)