K11K (p.Lys11Lys) variant of SPAST (Spastin)
K11K (p.Lys11Lys) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K11K (p.Lys11Lys) variant details
- p.Lys11Lys
- gnomAD 2-32063864-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 15.20
- Population evidence available
- Structural context available
- Literature evidence available