I304F (p.Ile304Phe) variant of TGM1 (P22735)
I304F (p.Ile304Phe) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I304F (p.Ile304Phe) variant details
- p.Ile304Phe
- rs753798494
- ExAC rs753798494
- TOPMed rs753798494
- gnomAD rs753798494
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.73
- CADD 23.30
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the South Asian population (allele frequency 4.6e-05)
- 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)