A22A (p.Ala22Ala) variant of DYSF (Dysferlin)
A22A (p.Ala22Ala) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- gnomAD 2-71454064-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 15.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available