D21N (p.Asp21Asn) variant of DYSF (Dysferlin)
D21N (p.Asp21Asn) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- TOPMed rs1202468899
- gnomAD rs1202468899
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 32.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available