C24S (p.Cys24Ser) variant of DYSF (Dysferlin)
C24S (p.Cys24Ser) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C24S (p.Cys24Ser) variant details
- p.Cys24Ser
- gnomAD 2-71466849-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 28.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available