A78S (p.Ala78Ser) variant of CYP27B1 (O15528)
A78S (p.Ala78Ser) in CYP27B1 (O15528) is a missense change. 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.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- ExAC rs768276712
- TOPMed rs768276712
- gnomAD rs768276712
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.16
- Population evidence available
- Structural context available