G15V (p.Gly15Val) variant of SPAST (Spastin)
G15V (p.Gly15Val) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD 2-32063875-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.17
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available