R153P (p.Arg153Pro) variant of ERCC4 (DNA repair endonuclease XPF)
R153P (p.Arg153Pro) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of XFE progeroid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R153P (p.Arg153Pro) variant details
- p.Arg153Pro
- rs121913050
- ClinGen CA126688
- cosmic curated COSV61312
- ClinVar RCV000018049
- Pathogenic
- XFE progeroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.92
- AlphaMissense 0.73
- MetaLR 0.79
- MetaSVM 0.80
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (XFE progeroid syndrome)
- EBI: Pathogenic (in XFEPS)
- UniProt: Pathogenic (in XFEPS)
- Population evidence available
- Structural context available
- Cited in: A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. (PMID 17183314)