G14C (p.Gly14Cys) variant of SPAST (Spastin)
G14C (p.Gly14Cys) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD 2-32063871-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.31
- CADD 28.50
- PolyPhen-2 0.72
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available