G291D (p.Gly291Asp) variant of TGM1 (P22735)
G291D (p.Gly291Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G291D (p.Gly291Asp) variant details
- p.Gly291Asp
- rs780990272
- ExAC rs780990272
- TOPMed rs780990272
- gnomAD rs780990272
- Pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)