G125V (p.Gly125Val) variant of CYP27B1 (O15528)
G125V (p.Gly125Val) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G125V (p.Gly125Val) variant details
- p.Gly125Val
- TOPMed rs28934605
- Conflicting interpretations
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Conflicting classifications of pathogenicity (Vitamin D-dependent rickets, type 1A)
- EBI: Likely pathogenic (in VDDR1A)
- UniProt: Likely pathogenic (in VDDR1A)
- Structural context available