R9G (p.Arg9Gly) variant of ERCC4 (DNA repair endonuclease XPF)
R9G (p.Arg9Gly) 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 Inborn genetic diseases; Xeroderma pigmentosum, group F; Fanconi anemia compleme. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs1326609617
- ClinGen CA394815864
- ClinVar RCV002650366
- ClinVar RCV006357503
- Uncertain significance
- Inborn genetic diseases; Xeroderma pigmentosum, group F; Fanconi anemia compleme
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.10
- CADD 7.07
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases; Xeroderma pigmentosum, group F; Fanconi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)