R93Q (p.Arg93Gln) variant of TGM1 (P22735)
R93Q (p.Arg93Gln) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R93Q (p.Arg93Gln) variant details
- p.Arg93Gln
- rs753328770
- ExAC rs753328770
- TOPMed rs753328770
- gnomAD rs753328770
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.35
- CADD 21.20
- PolyPhen-2 0.95
- SIFT 0.33
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)