G5C (p.Gly5Cys) variant of SPAST (Spastin)
G5C (p.Gly5Cys) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 2-32063844-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.42
- CADD 25.20
- PolyPhen-2 0.45
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available