V761E (p.Val761Glu) variant of FANCA (Fanconi anemia group A protein)
V761E (p.Val761Glu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
V761E (p.Val761Glu) variant details
- p.Val761Glu
- rs2039276663
- ClinGen CA397445150
- ClinVar RCV001256262
- UniProt VAR 038014
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.69
- MetaLR 0.67
- MetaSVM -0.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic (in dbSNP:rs2039276663)
- UniProt: Pathogenic (in dbSNP:rs2039276663)
- Structural context available
- Cited in: Genetic subtyping of Fanconi anemia by comprehensive mutation screening. (PMID 17924555)
- Cited in: Fanconi Anemia. (PMID 20301575)