F17F (p.Phe17Phe) variant of NF1 (Neurofibromin)
F17F (p.Phe17Phe) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
F17F (p.Phe17Phe) variant details
- p.Phe17Phe
- rs1369290988
- gnomAD 17-31095360-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 20.40
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available