P105L (p.Pro105Leu) variant of CYP27B1 (O15528)
P105L (p.Pro105Leu) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P105L (p.Pro105Leu) variant details
- p.Pro105Leu
- gnomAD rs1316435952
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- ESM-1b 1.00
- AlphaMissense 0.56
- Population evidence available
- Structural context available