G18V (p.Gly18Val) variant of SPG7 (Q9UQ90)
G18V (p.Gly18Val) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs1371729405
- ClinGen CA397415896
- ClinVar RCV000517403
- TOPMed rs1371729405
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 18.70
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available