R32K (p.Arg32Lys) variant of FANCA (Fanconi anemia group A protein)
R32K (p.Arg32Lys) 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 0.10 / 1. The record also includes population frequency data and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- cosmic curated COSV10654
- ExAC rs770984577
- TOPMed rs770984577
- gnomAD rs770984577
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.04
- CADD 6.42
- PolyPhen-2 0.01
- SIFT 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available