R264Q (p.Arg264Gln) variant of TGM1 (P22735)
R264Q (p.Arg264Gln) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis; Treacher Colli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R264Q (p.Arg264Gln) variant details
- p.Arg264Gln
- rs781006633
- ClinGen CA7131282
- ClinVar RCV000320209
- ClinVar RCV001046072
- Pathogenic/Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis; Treacher Colli
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.71
- CADD 25.40
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive congenital ichthyosis 1; Lamellar ichthyosis)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)