R315L (p.Arg315Leu) variant of TGM1 (P22735)
R315L (p.Arg315Leu) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R315L (p.Arg315Leu) variant details
- p.Arg315Leu
- rs143473912
- ClinGen CA261153
- ClinVar RCV000032729
- ClinVar RCV000413918
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.84
- CADD 26.50
- PolyPhen-2 0.76
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the African/African-American population (allele frequency 0.00063)
- Structural context available
- Cited in: Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis. (PMID 10232404)
- Cited in: Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. (PMID 16280294)