P15S (p.Pro15Ser) variant of DYSF (Dysferlin)
P15S (p.Pro15Ser) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- ExAC rs755484132
- TOPMed rs755484132
- gnomAD rs755484132
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 17.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available