G6V (p.Gly6Val) variant of SPAST (Spastin)
G6V (p.Gly6Val) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 2-32063848-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.44
- CADD 24.40
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available