P43S (p.Pro43Ser) variant of CYP27B1 (O15528)
P43S (p.Pro43Ser) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- gnomAD rs1329033115
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.53
- Population evidence available
- Structural context available