P43L (p.Pro43Leu) variant of CYP27B1 (O15528)
P43L (p.Pro43Leu) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- Ensembl rs1193681282
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- ESM-1b 0.53
- AlphaMissense 0.32
- Population evidence available
- Structural context available