G48E (p.Gly48Glu) variant of CYP3A4 (Cytochrome P450 3A4)
G48E (p.Gly48Glu) 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 0.53 / 1.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- rs1366906328
- NCI-TCGA Cosmic COSV6050
- gnomAD rs1366906328
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.95
- MetaLR 0.38
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- UniProt: Variant assessed as somatic; moderate impact.