K33M (p.Lys33Met) variant of DYSF (Dysferlin)
K33M (p.Lys33Met) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K33M (p.Lys33Met) variant details
- p.Lys33Met
- rs539484245
- gnomAD 2-71480889-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.69
- AlphaMissense 0.91
- MetaLR 0.43
- MetaSVM -0.27
- CADD 31.00
- PolyPhen-2 0.96
- Population evidence available
- Structural context available
- Literature evidence available