G5S (p.Gly5Ser) variant of SPAST (Spastin)
G5S (p.Gly5Ser) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- gnomAD 2-32063844-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.34
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available