L2L (p.Leu2Leu) variant of DYSF (Dysferlin)
L2L (p.Leu2Leu) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L2L (p.Leu2Leu) variant details
- p.Leu2Leu
- rs772536111
- gnomAD 2-71454002-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available