L29V (p.Leu29Val) variant of SPAST (Spastin)
L29V (p.Leu29Val) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- TOPMed rs1676390571
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.17
- CADD 5.83
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available