R143H (p.Arg143His) variant of TGM1 (P22735)
R143H (p.Arg143His) 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; not provided; Autosomal recessive congenital. 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.
R143H (p.Arg143His) variant details
- p.Arg143His
- rs121918719
- ClinGen CA256459
- NCI-TCGA Cosmic COSV5286
- ClinVar RCV000013299
- Pathogenic/Likely pathogenic
- Ichthyosis and erythrokeratoderma; not provided; Autosomal recessive congenital
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.93
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ichthyosis and erythrokeratoderma; not provided; Autosomal reces)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the East Asian population (allele frequency 2.5e-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: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. (PMID 7773290)