R126H (p.Arg126His) variant of TGM1 (P22735)
R126H (p.Arg126His) 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; Lamellar ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R126H (p.Arg126His) variant details
- p.Arg126His
- rs200491579
- ESP rs200491579
- ExAC rs200491579
- TOPMed rs200491579
- Pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided; Lamellar ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.67
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1; not provided; Lamel)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Non-Finnish European population (allele frequency 7.4e-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)