G12D (p.Gly12Asp) variant of SPAST (Spastin)
G12D (p.Gly12Asp) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- gnomAD 2-32063866-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.43
- CADD 22.90
- PolyPhen-2 0.28
- SIFT 0.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available