K10K (p.Lys10Lys) variant of SPAST (Spastin)
K10K (p.Lys10Lys) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K10K (p.Lys10Lys) variant details
- p.Lys10Lys
- rs768928614
- gnomAD 2-32063861-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 13.90
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available