P74L (p.Pro74Leu) variant of CYP27B1 (O15528)
P74L (p.Pro74Leu) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- rs2540918369
- ClinGen CA385509502
- ClinVar RCV003761188
- Uncertain significance
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- ESM-1b 1.00
- AlphaMissense 0.27
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available