R335P (p.Arg335Pro) variant of CYP27B1 (O15528)
R335P (p.Arg335Pro) 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 0.51 / 1. The record also includes published literature and structural context.
R335P (p.Arg335Pro) variant details
- p.Arg335Pro
- rs28934606
- ClinGen CA115126
- ClinVar RCV000001727
- UniProt VAR 016956
- Pathogenic
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.84
- PolyPhen-2 0.61
- SIFT 0.10
- ClinVar: Pathogenic (Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Structural context available
- Cited in: Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency… (PMID 9486994)
- Cited in: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets… (PMID 10320521)