R307G (p.Arg307Gly) variant of TGM1 (P22735)
R307G (p.Arg307Gly) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R307G (p.Arg307Gly) variant details
- p.Arg307Gly
- rs121918731
- ClinGen CA7131235
- ClinVar RCV000413014
- ClinVar RCV000599792
- Pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.73
- CADD 24.30
- PolyPhen-2 0.60
- 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 0.00066)
- Structural context available
- Cited in: Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in… (PMID 19890349)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)