R9P (p.Arg9Pro) variant of ERCC4 (DNA repair endonuclease XPF)
R9P (p.Arg9Pro) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- rs1214498950
- ClinGen CA394815872
- ClinVar RCV001059205
- gnomAD rs1214498950
- Uncertain significance
- Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.0422
- REVEL 0.03
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Cockayne syndrome; Xeroderma pigmentosum, group F; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)