R3M (p.Arg3Met) variant of DYSF (Dysferlin)
R3M (p.Arg3Met) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R3M (p.Arg3Met) variant details
- p.Arg3Met
- gnomAD 2-71466865-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.39
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available