P15A (p.Pro15Ala) variant of DYSF (Dysferlin)
P15A (p.Pro15Ala) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- ExAC rs755484132
- TOPMed rs755484132
- gnomAD rs755484132
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available