R143C (p.Arg143Cys) variant of TGM1 (P22735)
R143C (p.Arg143Cys) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive congenital ichthyosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R143C (p.Arg143Cys) variant details
- p.Arg143Cys
- rs531650682
- ClinGen CA7131416
- ClinVar RCV000413120
- ClinVar RCV000666751
- Pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.91
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal… (PMID 26220141)
- Cited in: Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an… (PMID 9326318)