E125D (p.Glu125Asp) variant of CYP3A4 (Cytochrome P450 3A4)
E125D (p.Glu125Asp) in CYP3A4 (Cytochrome P450 3A4) is a missense change. Clinical records from ClinVar, EBI, 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 0.05 / 1. The record also includes population frequency data and structural context.
E125D (p.Glu125Asp) variant details
- p.Glu125Asp
- rs1815592239
- NCI-TCGA Cosmic COSV1003
- TOPMed rs1815592239
- ClinGen CA368373532
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0532
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available