T17S (p.Thr17Ser) variant of DYSF (Dysferlin)
T17S (p.Thr17Ser) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- TOPMed rs1377182810
- gnomAD rs1377182810
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 17.50
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available