G56W (p.Gly56Trp) variant of CYP27B1 (O15528)
G56W (p.Gly56Trp) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G56W (p.Gly56Trp) variant details
- p.Gly56Trp
- ExAC rs202032208
- gnomAD rs202032208
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- ESM-1b 1.00
- AlphaMissense 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available