N387T (p.Asn387Thr) variant of CYP27B1 (O15528)
N387T (p.Asn387Thr) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
N387T (p.Asn387Thr) variant details
- p.Asn387Thr
- rs2140396410
- ClinGen CA385502739
- ClinVar RCV001843330
- Ensembl rs2140396410
- Likely pathogenic
- Vitamin D-dependent rickets, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.24
- MetaSVM -0.80
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available