G94D (p.Gly94Asp) variant of TGM1 (P22735)
G94D (p.Gly94Asp) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- rs121918729
- 1000Genomes rs121918729
- ExAC rs121918729
- TOPMed rs121918729
- Conflicting interpretations
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.58
- CADD 13.40
- PolyPhen-2 0.37
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the HGDP:MOZABITE population (allele frequency 0.04)
- 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)