R429P (p.Arg429Pro) variant of CYP27B1 (O15528)
R429P (p.Arg429Pro) 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; not provided; Multiple sclerosis, suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
R429P (p.Arg429Pro) variant details
- p.Arg429Pro
- rs568165874
- ClinGen CA10588555
- ClinVar RCV000255484
- ClinVar RCV001329404
- Pathogenic/Likely pathogenic
- Vitamin D-dependent rickets, type 1A; not provided; Multiple sclerosis, suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- ESM-1b 1.00
- AlphaMissense 0.06
- MetaLR 0.19
- MetaSVM -0.96
- PolyPhen-2 0.07
- SIFT 0.57
- ClinVar: Pathogenic/Likely pathogenic (Vitamin D-dependent rickets, type 1A; not provided; Multiple scl)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Structural context available
- Cited in: Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. (PMID 9837822)
- Cited in: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets… (PMID 10320521)