R396C (p.Arg396Cys) variant of TGM1 (P22735)
R396C (p.Arg396Cys) 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; Autosomal recessive congenital ichthyosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R396C (p.Arg396Cys) variant details
- p.Arg396Cys
- rs543521135
- 1000Genomes rs543521135
- ExAC rs543521135
- TOPMed rs543521135
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.06
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)