G57E (p.Gly57Glu) variant of CYP27B1 (O15528)
G57E (p.Gly57Glu) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
G57E (p.Gly57Glu) variant details
- p.Gly57Glu
- rs376304260
- NCI-TCGA Cosmic COSV9914
- ESP rs376304260
- ExAC rs376304260
- Pathogenic
- 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
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available