L27F (p.Leu27Phe) variant of ERCC4 (DNA repair endonuclease XPF)
L27F (p.Leu27Phe) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- rs587778282
- ClinGen CA158858
- ClinVar RCV000120804
- ClinVar RCV000372597
- Uncertain significance
- Xeroderma pigmentosum, group F; Fanconi anemia complementation group Q; Cockayne
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.05
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Fanconi anemia complementation g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)