F46F (p.Phe46Phe) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F46F (p.Phe46Phe) in SOD1 (Superoxide dismutase [Cu-Zn]) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F46F (p.Phe46Phe) variant details
- p.Phe46Phe
- rs1421563256
- gnomAD 21-31663855-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 9.45
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available