G208V (p.Gly208Val) variant of CYP27B1 (O15528)
G208V (p.Gly208Val) 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 0.76 / 1. The record also includes structural context.
G208V (p.Gly208Val) variant details
- p.Gly208Val
- rs2140397019
- ClinGen CA385505528
- ClinVar RCV001843329
- Ensembl rs2140397019
- Likely pathogenic
- Vitamin D-dependent rickets, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.61
- MetaSVM 0.34
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available