R589W (p.Arg589Trp) variant of ERCC4 (DNA repair endonuclease XPF)
R589W (p.Arg589Trp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive cerebellar ataxia; ERCC4-related disorder; Cockayne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R589W (p.Arg589Trp) variant details
- p.Arg589Trp
- rs147105770
- ClinGen CA143941
- ClinVar RCV000049250
- ClinVar RCV000700109
- Pathogenic/Likely pathogenic
- Autosomal recessive cerebellar ataxia; ERCC4-related disorder; Cockayne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.75
- MetaLR 0.55
- MetaSVM 0.22
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive cerebellar ataxia; ERCC4-related disorder; C)
- EBI: Pathogenic (in XPF/CS)
- UniProt: Pathogenic (in XPF/CS)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. (PMID 21612988)
- Cited in: Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma… (PMID 23623389)