R89Q (p.Arg89Gln) variant of TGM1 (P22735)
R89Q (p.Arg89Gln) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- rs141492969
- ClinGen CA7131495
- ClinVar RCV001277602
- ESP rs141492969
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.22
- CADD 1.11
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)