G392D (p.Gly392Asp) variant of TGM1 (P22735)
G392D (p.Gly392Asp) 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 0.99 / 1. The record also includes published literature and structural context.
G392D (p.Gly392Asp) variant details
- p.Gly392Asp
- rs121918726
- Ensembl rs121918726
- ClinGen CA256470
- ClinVar RCV000013316
- Pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Structural context available
- Cited in: Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. (PMID 11298529)
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)