E878Q (p.Glu878Gln) variant of FANCA (Fanconi anemia group A protein)
E878Q (p.Glu878Gln) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
E878Q (p.Glu878Gln) variant details
- p.Glu878Gln
- rs1017086086
- ClinGen CA397438857
- ClinVar RCV001256501
- gnomAD rs1017086086
- Likely pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.13
- MetaLR 0.86
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Fanconi anemia complementation group A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)