R78* (p.Arg78Ter) variant of TGM1 (P22735)
R78* (p.Arg78Ter) in TGM1 (P22735) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R78* (p.Arg78Ter) variant details
- p.Arg78Ter
- rs760429286
- ExAC rs760429286
- TOPMed rs760429286
- gnomAD rs760429286
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)