V45V (p.Val45Val) variant of DYSF (Dysferlin)
V45V (p.Val45Val) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V45V (p.Val45Val) variant details
- p.Val45Val
- gnomAD 2-71480929-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 8.75
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available