R19G (p.Arg19Gly) variant of FANCA (Fanconi anemia group A protein)
R19G (p.Arg19Gly) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- TOPMed rs1300733063
- gnomAD rs1300733063
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.35
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available