D28G (p.Asp28Gly) variant of ERCC4 (DNA repair endonuclease XPF)
D28G (p.Asp28Gly) 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 Cockayne syndrome; Fanconi anemia complementation group Q; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D28G (p.Asp28Gly) variant details
- p.Asp28Gly
- rs367608263
- ClinGen CA7910083
- ClinVar RCV003788050
- ClinVar RCV005836570
- Uncertain significance
- Cockayne syndrome; Fanconi anemia complementation group Q; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.05
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Cockayne syndrome; Fanconi anemia complementation group Q; Xerod)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)