I480F (p.Ile480Phe) variant of TGM1 (P22735)
I480F (p.Ile480Phe) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I480F (p.Ile480Phe) variant details
- p.Ile480Phe
- rs377119683
- ClinGen CA7131083
- ClinVar RCV001379755
- ClinVar RCV004570936
- Pathogenic/Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.71
- MetaLR 0.82
- MetaSVM 0.35
- CADD 21.80
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)