K11E (p.Lys11Glu) variant of SPAST (Spastin)
K11E (p.Lys11Glu) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- gnomAD 2-32063862-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.36
- CADD 24.30
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available