G109S (p.Gly109Ser) variant of CYP3A4 (Cytochrome P450 3A4)
G109S (p.Gly109Ser) in CYP3A4 (Cytochrome P450 3A4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets, type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
G109S (p.Gly109Ser) variant details
- p.Gly109Ser
- ExAC rs777024826
- TOPMed rs777024826
- gnomAD rs777024826
- Uncertain significance
- Vitamin D-dependent rickets, type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 20.80
- PolyPhen-2 0.40
- SIFT 0.08
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 3)
- UniProt: Uncertain significance
- Population evidence available