G102E (p.Gly102Glu) variant of CYP27B1 (O15528)
G102E (p.Gly102Glu) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
G102E (p.Gly102Glu) variant details
- p.Gly102Glu
- rs1057520815
- ClinGen CA16606366
- ClinVar RCV000443114
- ClinVar RCV000723316
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.39
- MetaSVM -0.30
- PolyPhen-2 0.99
- SIFT 0.14
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available