L2M (p.Leu2Met) variant of DYSF (Dysferlin)
L2M (p.Leu2Met) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L2M (p.Leu2Met) variant details
- p.Leu2Met
- gnomAD 2-71466846-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.53
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available