D490G (p.Asp490Gly) variant of TGM1 (P22735)
D490G (p.Asp490Gly) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D490G (p.Asp490Gly) variant details
- p.Asp490Gly
- rs121918724
- ClinGen CA256468
- ClinVar RCV000013313
- ClinVar RCV001857339
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.97
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Lamellar ichthyosis; not provided; Autosomal recessive congenita)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. (PMID 12542526)
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)