G5D (p.Gly5Asp) variant of SPAST (Spastin)
G5D (p.Gly5Asp) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- TOPMed rs1356764866
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.22
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available