R37C (p.Arg37Cys) variant of ERCC4 (DNA repair endonuclease XPF)
R37C (p.Arg37Cys) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Xeroderma pigmentosum, group F; Cockayne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- rs144602005
- ClinGen CA7910087
- ClinVar RCV001066566
- ClinVar RCV003238298
- Uncertain significance
- not provided; Xeroderma pigmentosum, group F; Cockayne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.21
- CADD 29.90
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Xeroderma pigmentosum, group F; Cockayne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)