R122Q (p.Arg122Gln) variant of CYP27B1 (O15528)
R122Q (p.Arg122Gln) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
R122Q (p.Arg122Gln) variant details
- p.Arg122Gln
- Ensembl rs995481284
- Uncertain significance
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available