V4V (p.Val4Val) variant of DYSF (Dysferlin)
V4V (p.Val4Val) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V4V (p.Val4Val) variant details
- p.Val4Val
- gnomAD 2-71454010-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available