C411Y (p.Cys411Tyr) variant of CYP27B1 (O15528)
C411Y (p.Cys411Tyr) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
C411Y (p.Cys411Tyr) variant details
- p.Cys411Tyr
- rs2140396224
- ClinGen CA385501225
- ClinVar RCV001843693
- Ensembl rs2140396224
- Likely pathogenic
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.30
- MetaSVM -0.68
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available