K50E (p.Lys50Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
K50E (p.Lys50Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- ExAC rs747157259
- TOPMed rs747157259
- gnomAD rs747157259
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available