N11Y (p.Asn11Tyr) variant of DYSF (Dysferlin)
N11Y (p.Asn11Tyr) in DYSF (Dysferlin) is a missense 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.
N11Y (p.Asn11Tyr) variant details
- p.Asn11Tyr
- gnomAD 2-71454029-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 27.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available