D18Y (p.Asp18Tyr) variant of DYSF (Dysferlin)
D18Y (p.Asp18Tyr) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- gnomAD 2-71454050-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available