G14D (p.Gly14Asp) variant of SPAST (Spastin)
G14D (p.Gly14Asp) 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, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD 2-32063872-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.40
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available