R315C (p.Arg315Cys) variant of TGM1 (P22735)
R315C (p.Arg315Cys) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R315C (p.Arg315Cys) variant details
- p.Arg315Cys
- rs397514525
- TOPMed rs397514525
- gnomAD rs397514525
- ClinGen CA261151
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.79
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Lamellar ichthyosis; not provided; Autosomal recessive congenita)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)