G16R (p.Gly16Arg) variant of FANCA (Fanconi anemia group A protein)
G16R (p.Gly16Arg) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs943773590
- ClinGen CA16615039
- ClinVar RCV000461194
- ClinVar RCV002489041
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0998
- REVEL 0.10
- CADD 6.01
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)