S30K (p.Ser30Lys) variant of SPG7 (Q9UQ90)
S30K (p.Ser30Lys) in SPG7 (Q9UQ90) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S30K (p.Ser30Lys) variant details
- p.Ser30Lys
- gnomAD 16-89507740-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.64
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available