R142H (p.Arg142His) variant of TGM1 (P22735)
R142H (p.Arg142His) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive congenital ichthyosis 7; Lamellar ichthyosis; not provided. 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.
R142H (p.Arg142His) variant details
- p.Arg142His
- rs121918718
- ExAC rs121918718
- TOPMed rs121918718
- gnomAD rs121918718
- Pathogenic/Likely pathogenic
- Autosomal recessive congenital ichthyosis 7; Lamellar ichthyosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive congenital ichthyosis 7; Lamellar ichthyosis)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. (PMID 7773290)
- Cited in: Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an… (PMID 9326318)