R286W (p.Arg286Trp) variant of TGM1 (P22735)
R286W (p.Arg286Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R286W (p.Arg286Trp) variant details
- p.Arg286Trp
- rs773777400
- ClinGen CA7131267
- ClinVar RCV000782371
- ClinVar RCV003727824
- Pathogenic/Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.68
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)