L343F (p.Leu343Phe) variant of CYP27B1 (O15528)
L343F (p.Leu343Phe) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
L343F (p.Leu343Phe) variant details
- p.Leu343Phe
- rs118204011
- ClinGen CA115135
- ClinVar RCV000001740
- UniProt VAR 016957
- Pathogenic
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.64
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Structural context available
- Cited in: Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. (PMID 12050193)
- Cited in: Rare variants in the CYP27B1 gene are associated with multiple sclerosis. (PMID 22190362)