P17S (p.Pro17Ser) variant of SPG7 (Q9UQ90)
P17S (p.Pro17Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- TOPMed rs1031899714
- gnomAD rs1031899714
- Missense
- Variant Prioritization Score for Impact Estimate 0.0992
- CADD 0.74
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available