L7V (p.Leu7Val) variant of DYSF (Dysferlin)
L7V (p.Leu7Val) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs2081567899
- gnomAD 2-71466855-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available