C24F (p.Cys24Phe) variant of DYSF (Dysferlin)
C24F (p.Cys24Phe) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C24F (p.Cys24Phe) variant details
- p.Cys24Phe
- TOPMed rs2080946831
- gnomAD rs2080946831
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 26.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available