F48F (p.Phe48Phe) variant of FANCD2 (Fanconi anemia group D2 protein)
F48F (p.Phe48Phe) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
F48F (p.Phe48Phe) variant details
- p.Phe48Phe
- rs750534583
- gnomAD 3-10032911-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 7.55
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available