A7T (p.Ala7Thr) variant of ERCC4 (DNA repair endonuclease XPF)
A7T (p.Ala7Thr) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs771117594
- ClinGen CA7910062
- ClinVar RCV000688763
- ClinVar RCV004972857
- Uncertain significance
- Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)