W113R (p.Trp113Arg) variant of CYP27B1 (O15528)
W113R (p.Trp113Arg) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
W113R (p.Trp113Arg) variant details
- p.Trp113Arg
- ExAC rs751386712
- gnomAD rs751386712
- Uncertain significance
- Inborn genetic diseases; Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Uncertain significance (Inborn genetic diseases; Vitamin D-dependent rickets, type 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available