G278R (p.Gly278Arg) variant of TGM1 (P22735)
G278R (p.Gly278Arg) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G278R (p.Gly278Arg) variant details
- p.Gly278Arg
- rs121918725
- ExAC rs121918725
- TOPMed rs121918725
- gnomAD rs121918725
- Pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. (PMID 11298529)
- Cited in: Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. (PMID 12542526)