Y276N (p.Tyr276Asn) variant of TGM1 (P22735)
Y276N (p.Tyr276Asn) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y276N (p.Tyr276Asn) variant details
- p.Tyr276Asn
- rs397514523
- ClinGen CA261149
- ClinVar RCV000032725
- UniProt VAR 058657
- Pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.96
- MetaLR 0.85
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Structural context available
- Cited in: Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. (PMID 16968736)
- Cited in: Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. (PMID 19212342)