R54* (p.Arg54Ter) variant of TGM1 (P22735)
R54* (p.Arg54Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- rs140000324
- 1000Genomes rs140000324
- ESP rs140000324
- ExAC rs140000324
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)