R49C (p.Arg49Cys) variant of FANCA (Fanconi anemia group A protein)
R49C (p.Arg49Cys) 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 0.18 / 1. The record also includes population frequency data and structural context.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- TOPMed rs929925295
- gnomAD rs929925295
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- CADD 21.30
- PolyPhen-2 0.45
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available