S358R (p.Ser358Arg) variant of TGM1 (P22735)
S358R (p.Ser358Arg) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S358R (p.Ser358Arg) variant details
- p.Ser358Arg
- rs779287673
- ExAC rs779287673
- gnomAD rs779287673
- ClinGen CA7131199
- Pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.88
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Lamellar ichthyosis; not provided; Autosomal recessive congenita)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)