I6N (p.Ile6Asn) variant of DYSF (Dysferlin)
I6N (p.Ile6Asn) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I6N (p.Ile6Asn) variant details
- p.Ile6Asn
- rs1354334539
- ClinGen CA347205929
- ClinVar RCV000598153
- ClinVar RCV001041107
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 29.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)