G16E (p.Gly16Glu) variant of FANCA (Fanconi anemia group A protein)
G16E (p.Gly16Glu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- rs908258968
- ClinGen CA286612753
- ClinVar RCV001242343
- ClinVar RCV002564025
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.14
- CADD 7.65
- PolyPhen-2 0.15
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-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)