V383M (p.Val383Met) variant of TGM1 (P22735)
V383M (p.Val383Met) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V383M (p.Val383Met) variant details
- p.Val383Met
- rs121918722
- ClinGen CA256466
- ClinVar RCV000013310
- ClinVar RCV001379756
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.86
- MetaLR 0.86
- MetaSVM 0.95
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Lamellar ichthyosis; not provided; Autosomal recessive congenita)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Population evidence available
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for… (PMID 9359043)