P6S (p.Pro6Ser) variant of ERCC4 (DNA repair endonuclease XPF)
P6S (p.Pro6Ser) 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; Xeroderma pigmentosum, group F; Fanconi anemia complementatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs61760160
- ClinGen CA158855
- ClinVar RCV000120803
- ClinVar RCV000475143
- Uncertain significance
- Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.30
- CADD 8.19
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)