Q41E (p.Gln41Glu) variant of FANCA (Fanconi anemia group A protein)
Q41E (p.Gln41Glu) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q41E (p.Gln41Glu) variant details
- p.Gln41Glu
- rs764533094
- ClinGen CA397483519
- ClinVar RCV001302030
- ExAC rs764533094
- Uncertain significance
- Fanconi anemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.05
- CADD 14.40
- PolyPhen-2 0.08
- SIFT 0.23
- ClinVar: Uncertain significance (Fanconi anemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)