A13S (p.Ala13Ser) variant of ERCC4 (DNA repair endonuclease XPF)
A13S (p.Ala13Ser) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- rs374243778
- ClinGen CA7910070
- ClinVar RCV001056526
- ClinVar RCV005055151
- Uncertain significance
- Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.22
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00018)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)