L29P (p.Leu29Pro) variant of SPAST (Spastin)
L29P (p.Leu29Pro) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- Ensembl rs1676390679
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.32
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available