S3L (p.Ser3Leu) variant of ERCC4 (DNA repair endonuclease XPF)
S3L (p.Ser3Leu) 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; Cockayne syndrome; Fanconi anemia complementatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs148904556
- ClinGen CA7910055
- ClinVar RCV000362531
- ClinVar RCV003765689
- Uncertain significance
- Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.32
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)