V27V (p.Val27Val) variant of DYSF (Dysferlin)
V27V (p.Val27Val) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V27V (p.Val27Val) variant details
- p.Val27Val
- gnomAD 2-71454079-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available