T409I (p.Thr409Ile) variant of CYP27B1 (O15528)
T409I (p.Thr409Ile) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CYP27B1-related disorder; Vitamin D-dependent rickets, type 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T409I (p.Thr409Ile) variant details
- p.Thr409Ile
- rs118204008
- ClinGen CA115132
- ClinVar RCV000001735
- ClinVar RCV001234461
- Pathogenic/Likely pathogenic
- CYP27B1-related disorder; Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.11
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Pathogenic/Likely pathogenic (CYP27B1-related disorder; Vitamin D-dependent rickets, type 1A;)
- EBI: Pathogenic (in VDDR1A)
- UniProt: Pathogenic (in VDDR1A)
- Population evidence available
- 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: Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. (PMID 9837822)