S20S (p.Ser20Ser) variant of DYSF (Dysferlin)
S20S (p.Ser20Ser) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- gnomAD 2-71466872-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available