I19F (p.Ile19Phe) variant of DYSF (Dysferlin)
I19F (p.Ile19Phe) 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.
I19F (p.Ile19Phe) variant details
- p.Ile19Phe
- gnomAD rs1259434756
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 23.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available