G273R (p.Gly273Arg) variant of TGM1 (P22735)
G273R (p.Gly273Arg) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G273R (p.Gly273Arg) variant details
- p.Gly273Arg
- rs1555306238
- TOPMed rs1555306238
- ClinGen CA389270140
- ClinVar RCV000519400
- Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)