S44A (p.Ser44Ala) variant of CYP27B1 (O15528)
S44A (p.Ser44Ala) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S44A (p.Ser44Ala) variant details
- p.Ser44Ala
- ExAC rs752594802
- gnomAD rs752594802
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- ESM-1b 0.38
- AlphaMissense 0.12
- Population evidence available
- Structural context available