R689S (p.Arg689Ser) variant of ERCC4 (DNA repair endonuclease XPF)
R689S (p.Arg689Ser) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemia complementatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R689S (p.Arg689Ser) variant details
- p.Arg689Ser
- rs149364215
- ClinGen CA143933
- ClinVar RCV000049245
- ClinVar RCV001067959
- Likely pathogenic
- Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.65
- MetaLR 0.50
- MetaSVM 0.26
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemi)
- EBI: Pathogenic (in FANCQ)
- UniProt: Pathogenic (in FANCQ)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. (PMID 23623386)
- Cited in: Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer… (PMID 24027083)