P17Q (p.Pro17Gln) variant of SPG7 (Q9UQ90)
P17Q (p.Pro17Gln) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- rs956304326
- ClinGen CA397415889
- ClinVar RCV001356438
- TOPMed rs956304326
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 8.02
- PolyPhen-2 0.07
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available