G218S (p.Gly218Ser) variant of TGM1 (P22735)
G218S (p.Gly218Ser) 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.
G218S (p.Gly218Ser) variant details
- p.Gly218Ser
- rs121918732
- ClinGen CA256477
- NCI-TCGA Cosmic COSV9925
- ClinVar RCV000013323
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.92
- CADD 26.30
- 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 African/African-American population (allele frequency 2.4e-05)
- 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)