R315H (p.Arg315His) variant of TGM1 (P22735)
R315H (p.Arg315His) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R315H (p.Arg315His) variant details
- p.Arg315His
- rs143473912
- ClinGen CA261152
- ClinVar RCV000032728
- ClinVar RCV000518957
- Pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.83
- CADD 27.00
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Pathogenic (Lamellar ichthyosis; not provided; Autosomal recessive congenita)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Latino/Admixed American population (allele frequency 9e-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: Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. (PMID 19212342)