P112L (p.Pro112Leu) variant of CYP27B1 (O15528)
P112L (p.Pro112Leu) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Vitamin D-dependent rickets, type 1A. 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.
P112L (p.Pro112Leu) variant details
- p.Pro112Leu
- rs1024923221
- ClinGen CA237815624
- ClinVar RCV002284044
- Ensembl rs1024923221
- Pathogenic/Likely pathogenic
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- ESM-1b 0.76
- AlphaMissense 0.28
- MetaLR 0.17
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Pathogenic/Likely pathogenic (Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available