R126C (p.Arg126Cys) variant of TGM1 (P22735)
R126C (p.Arg126Cys) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R126C (p.Arg126Cys) variant details
- p.Arg126Cys
- rs397514524
- ExAC rs397514524
- TOPMed rs397514524
- gnomAD rs397514524
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. (PMID 16968736)
- Cited in: Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. (PMID 19212342)