R286Q (p.Arg286Gln) variant of TGM1 (P22735)
R286Q (p.Arg286Gln) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R286Q (p.Arg286Gln) variant details
- p.Arg286Gln
- rs121918727
- ClinGen CA256471
- ClinVar RCV000013318
- ClinVar RCV000255608
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.65
- AlphaMissense 0.90
- MetaLR 0.85
- MetaSVM 0.77
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. (PMID 11298529)
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)