E10K (p.Glu10Lys) variant of DYSF (Dysferlin)
E10K (p.Glu10Lys) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- ExAC rs576699922
- TOPMed rs576699922
- gnomAD rs576699922
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 22.40
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available