R71* (p.Arg71Ter) variant of TGM1 (P22735)
R71* (p.Arg71Ter) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R71* (p.Arg71Ter) variant details
- p.Arg71Ter
- rs2040818118
- Ensembl rs2040818118
- ClinGen CA389280369
- ClinVar RCV001387569
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)