V45C (p.Val45Cys) variant of DYSF (Dysferlin)
V45C (p.Val45Cys) in DYSF (Dysferlin) is a protein-truncating 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.
V45C (p.Val45Cys) variant details
- p.Val45Cys
- rs1160607684
- gnomAD 2-71480925-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available