S20N (p.Ser20Asn) variant of DYSF (Dysferlin)
S20N (p.Ser20Asn) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- gnomAD rs1320882374
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 28.90
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available