V379L (p.Val379Leu) variant of TGM1 (P22735)
V379L (p.Val379Leu) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V379L (p.Val379Leu) variant details
- p.Val379Leu
- rs121918720
- 1000Genomes rs121918720
- ESP rs121918720
- ExAC rs121918720
- Pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.92
- MetaLR 0.89
- MetaSVM 1.04
- CADD 23.40
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: 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 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an… (PMID 9326318)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)