G14E (p.Gly14Glu) variant of CYP2B6 (Cytochrome P450 2B6)
G14E (p.Gly14Glu) in CYP2B6 (Cytochrome P450 2B6) 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 0.53 / 1. The record also includes population frequency data and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- rs1263464555
- gnomAD rs1263464555
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.47
- MetaLR 0.29
- MetaSVM -0.40
- CADD 21.40
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available