V45Y (p.Val45Tyr) variant of DYSF (Dysferlin)
V45Y (p.Val45Tyr) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V45Y (p.Val45Tyr) variant details
- p.Val45Tyr
- gnomAD 2-71480925-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available