N11N (p.Asn11Asn) variant of DYSF (Dysferlin)
N11N (p.Asn11Asn) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N11N (p.Asn11Asn) variant details
- p.Asn11Asn
- gnomAD 2-71454031-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.57
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available