Y23Y (p.Tyr23Tyr) variant of DYSF (Dysferlin)
Y23Y (p.Tyr23Tyr) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y23Y (p.Tyr23Tyr) variant details
- p.Tyr23Tyr
- gnomAD 2-71454067-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 14.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available