I6I (p.Ile6Ile) variant of DYSF (Dysferlin)
I6I (p.Ile6Ile) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I6I (p.Ile6Ile) variant details
- p.Ile6Ile
- rs2080944093
- gnomAD 2-71454016-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 15.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available