N43E (p.Asn43Glu) variant of DYSF (Dysferlin)
N43E (p.Asn43Glu) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
N43E (p.Asn43Glu) variant details
- p.Asn43Glu
- rs1573399606
- gnomAD 2-71480918-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available