G12C (p.Gly12Cys) variant of SPAST (Spastin)
G12C (p.Gly12Cys) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- gnomAD 2-32063865-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.47
- CADD 28.40
- PolyPhen-2 0.61
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available