G26R (p.Gly26Arg) variant of CYP27B1 (O15528)
G26R (p.Gly26Arg) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets, type 1A; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- ExAC rs748991170
- TOPMed rs748991170
- gnomAD rs748991170
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available