K33R (p.Lys33Arg) variant of DYSF (Dysferlin)
K33R (p.Lys33Arg) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- rs539484245
- gnomAD 2-71480889-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.28
- AlphaMissense 0.91
- MetaLR 0.43
- MetaSVM -0.27
- CADD 25.60
- PolyPhen-2 0.96
- Population evidence available
- Structural context available
- Literature evidence available