D30E (p.Asp30Glu) variant of ERCC4 (DNA repair endonuclease XPF)
D30E (p.Asp30Glu) 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 Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q; Cockayne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- rs1304744260
- TOPMed rs1304744260
- gnomAD rs1304744260
- ClinGen CA394816117
- Uncertain significance
- Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.46
- CADD 26.10
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Fanconi anemia complementation g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)