F28F (p.Phe28Phe) variant of DYSF (Dysferlin)
F28F (p.Phe28Phe) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F28F (p.Phe28Phe) variant details
- p.Phe28Phe
- rs1261407949
- gnomAD 2-71454082-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 16.50
- Population evidence available
- Structural context available
- Literature evidence available