L59F (p.Leu59Phe) variant of FANCD2 (Fanconi anemia group D2 protein)
L59F (p.Leu59Phe) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L59F (p.Leu59Phe) variant details
- p.Leu59Phe
- ExAC rs773656868
- TOPMed rs773656868
- gnomAD rs773656868
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available