A9V (p.Ala9Val) variant of DYSF (Dysferlin)
A9V (p.Ala9Val) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 2-71466868-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.55
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available