R492W (p.Arg492Trp) variant of CYP27B1 (O15528)
R492W (p.Arg492Trp) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R492W (p.Arg492Trp) variant details
- p.Arg492Trp
- rs749537609
- ClinGen CA6658116
- ClinVar RCV001063199
- ClinVar RCV002479372
- Pathogenic/Likely pathogenic
- not provided; Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.44
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Vitamin D-dependent rickets, type 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available