D16N (p.Asp16Asn) variant of DYSF (Dysferlin)
D16N (p.Asp16Asn) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- ESP rs140603487
- ExAC rs140603487
- TOPMed rs140603487
- gnomAD rs140603487
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 23.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available