W44fsX variant of TGM1 (P22735)
For W44fsX in TGM1 (P22735), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as likely pathogenic / pathogenic. The record also includes structural context.
W44fsX variant details
- rs886039654
- Likely pathogenic / Pathogenic
- EBI: ['likely-pathogenic', 'pathogenic']
- UniProt: Likely-pathogenic
- Structural context available