W288R (p.Trp288Arg) variant of TGM1 (P22735)
W288R (p.Trp288Arg) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W288R (p.Trp288Arg) variant details
- p.Trp288Arg
- rs1247223599
- gnomAD rs1247223599
- ClinGen CA389269599
- ClinVar RCV000782379
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.94
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)