E130Q (p.Glu130Gln) variant of CYP27B1 (O15528)
E130Q (p.Glu130Gln) 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 0.26 / 1. The record also includes population frequency data and structural context.
E130Q (p.Glu130Gln) variant details
- p.Glu130Gln
- 1000Genomes rs577603625
- ExAC rs577603625
- gnomAD rs577603625
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available