G15D (p.Gly15Asp) variant of SPAST (Spastin)
G15D (p.Gly15Asp) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- gnomAD rs1330833579
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available