C124G (p.Cys124Gly) variant of CYP27B1 (O15528)
C124G (p.Cys124Gly) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C124G (p.Cys124Gly) variant details
- p.Cys124Gly
- ExAC rs774677094
- gnomAD rs774677094
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- Population evidence available
- Structural context available