S41S (p.Ser41Ser) variant of DYSF (Dysferlin)
S41S (p.Ser41Ser) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S41S (p.Ser41Ser) variant details
- p.Ser41Ser
- rs369755508
- gnomAD 2-71480917-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0978
- CADD 2.42
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available