R323Q (p.Arg323Gln) variant of TGM1 (P22735)
R323Q (p.Arg323Gln) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ichthyosis and erythrokeratoderma; Lamellar ichthyosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R323Q (p.Arg323Gln) variant details
- p.Arg323Gln
- rs121918717
- ClinGen CA256462
- ClinVar RCV000013303
- ClinVar RCV000520296
- Pathogenic/Likely pathogenic
- Ichthyosis and erythrokeratoderma; Lamellar ichthyosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ichthyosis and erythrokeratoderma; Lamellar ichthyosis; not prov)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. (PMID 7824952)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)