D14E (p.Asp14Glu) variant of FANCA (Fanconi anemia group A protein)
D14E (p.Asp14Glu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- rs750021837
- ClinGen CA286612760
- ClinVar RCV001957844
- TOPMed rs750021837
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0721
- REVEL 0.08
- CADD 0.55
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)