G56R (p.Gly56Arg) variant of CYP27B1 (O15528)
G56R (p.Gly56Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- ExAC rs202032208
- gnomAD rs202032208
- Uncertain significance
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- ESM-1b 0.11
- AlphaMissense 0.18
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available