P19S (p.Pro19Ser) variant of SPG7 (Q9UQ90)
P19S (p.Pro19Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- gnomAD rs1466413332
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 7.43
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available