W455R (p.Trp455Arg) variant of TGM1 (P22735)
W455R (p.Trp455Arg) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
W455R (p.Trp455Arg) variant details
- p.Trp455Arg
- rs863223405
- Ensembl rs863223405
- ClinGen CA279146
- ClinVar RCV000201247
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)