C236R (p.Cys236Arg) variant of ERCC4 (DNA repair endonuclease XPF)
C236R (p.Cys236Arg) 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 Fanconi anemia complementation group Q; not provided; Xeroderma pigmentosum, gro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C236R (p.Cys236Arg) variant details
- p.Cys236Arg
- rs397509403
- ClinGen CA143938
- ClinVar RCV000049248
- ClinVar RCV001568088
- Pathogenic/Likely pathogenic
- Fanconi anemia complementation group Q; not provided; Xeroderma pigmentosum, gro
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.81
- CADD 28.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fanconi anemia complementation group Q; not provided; Xeroderma)
- EBI: Pathogenic (in XPF/CS)
- UniProt: Pathogenic (in XPF/CS)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma… (PMID 23623389)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)