E10E (p.Glu10Glu) variant of DYSF (Dysferlin)
E10E (p.Glu10Glu) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E10E (p.Glu10Glu) variant details
- p.Glu10Glu
- gnomAD 2-71454028-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available