L230P (p.Leu230Pro) variant of ERCC4 (DNA repair endonuclease XPF)
L230P (p.Leu230Pro) 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 Fanconi anemia complementation group Q. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
L230P (p.Leu230Pro) variant details
- p.Leu230Pro
- rs397509402
- ClinGen CA143936
- ClinVar RCV000049247
- UniProt VAR 070086
- Pathogenic
- Fanconi anemia complementation group Q
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.97
- MetaLR 0.68
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Fanconi anemia complementation group Q)
- EBI: Pathogenic (in FANCQ)
- UniProt: Pathogenic (in FANCQ)
- Structural context available
- Cited in: Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. (PMID 23623386)
- Cited in: Fanconi Anemia. (PMID 20301575)