L7L (p.Leu7Leu) variant of DYSF (Dysferlin)
L7L (p.Leu7Leu) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs2080944372
- gnomAD 2-71454019-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 13.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available