A9S (p.Ala9Ser) variant of DYSF (Dysferlin)
A9S (p.Ala9Ser) 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 0.78 / 1. The record also includes population frequency data and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD rs887165313
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 27.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available