P19G (p.Pro19Gly) variant of SPG7 (Q9UQ90)
P19G (p.Pro19Gly) in SPG7 (Q9UQ90) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P19G (p.Pro19Gly) variant details
- p.Pro19Gly
- rs2057959670
- gnomAD 16-89508459-TCCAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 24.60
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available