R389H (p.Arg389His) variant of TGM1 (P22735)
R389H (p.Arg389His) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R389H (p.Arg389His) variant details
- p.Arg389His
- rs121918723
- ClinGen CA256467
- ClinVar RCV000013311
- ClinVar RCV000523198
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.98
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Lamellar ichthyosis; not provided; Autosomal recessive congenita)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PMID 11251583)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)