G56E (p.Gly56Glu) variant of CYP27B1 (O15528)
G56E (p.Gly56Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G56E (p.Gly56Glu) variant details
- p.Gly56Glu
- rs769363080
- ClinGen CA385509780
- ClinVar RCV003115944
- ClinVar RCV005011223
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.31
- MetaSVM -0.46
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available