L7S (p.Leu7Ser) variant of DYSF (Dysferlin)
L7S (p.Leu7Ser) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- gnomAD 2-71454015-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available