G57V (p.Gly57Val) variant of CYP27B1 (O15528)
G57V (p.Gly57Val) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Vitamin D-dependent rickets, type 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- rs376304260
- ClinGen CA6658526
- ClinVar RCV001949260
- ClinVar RCV005635378
- Pathogenic/Likely pathogenic
- Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.53
- MetaSVM -0.18
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Vitamin D-dependent rickets, type 1A; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available