A9A (p.Ala9Ala) variant of DYSF (Dysferlin)
A9A (p.Ala9Ala) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs771520271
- gnomAD 2-71454025-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.84
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available