L29L (p.Leu29Leu) variant of SPAST (Spastin)
L29L (p.Leu29Leu) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L29L (p.Leu29Leu) variant details
- p.Leu29Leu
- rs1373511876
- gnomAD 2-32063918-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 13.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available