Q13E (p.Gln13Glu) variant of FANCA (Fanconi anemia group A protein)
Q13E (p.Gln13Glu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q13E (p.Gln13Glu) variant details
- p.Gln13Glu
- rs766131144
- ClinGen CA8253267
- ClinVar RCV001543114
- ClinVar RCV005341022
- Uncertain significance
- Fanconi anemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.13
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Fanconi anemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00022)
- 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)