G8R (p.Gly8Arg) variant of SPAST (Spastin)
G8R (p.Gly8Arg) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- TOPMed rs950926374
- gnomAD rs950926374
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.30
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available