A32V (p.Ala32Val) variant of SPAST (Spastin)
A32V (p.Ala32Val) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD 2-32063926-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available