K11del (p.Lys11del) variant of SPAST (Spastin)
K11del (p.Lys11del) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K11del (p.Lys11del) variant details
- gnomAD 2-32063854-GGAA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 21.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available