R23M (p.Arg23Met) variant of SPAST (Spastin)
R23M (p.Arg23Met) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R23M (p.Arg23Met) variant details
- p.Arg23Met
- gnomAD 2-32063899-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.37
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available