G62* (p.Gly62Ter) variant of TGM1 (P22735)
G62* (p.Gly62Ter) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G62* (p.Gly62Ter) variant details
- p.Gly62Ter
- rs886041950
- gnomAD rs886041950
- ClinGen CA10603315
- ClinVar RCV000285634
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)