R396L (p.Arg396Leu) variant of TGM1 (P22735)
R396L (p.Arg396Leu) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R396L (p.Arg396Leu) variant details
- p.Arg396Leu
- rs121918721
- ClinGen CA256465
- ClinVar RCV000013309
- ClinVar RCV000255177
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.96
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the 1KG:FIN population (allele frequency 0.015)
- 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)