R307W (p.Arg307Trp) variant of TGM1 (P22735)
R307W (p.Arg307Trp) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R307W (p.Arg307Trp) variant details
- p.Arg307Trp
- rs121918731
- 1000Genomes rs121918731
- ESP rs121918731
- ExAC rs121918731
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.76
- CADD 25.20
- PolyPhen-2 0.93
- 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 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. (PMID 11407995)
- Cited in: Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. (PMID 11511296)