A10P (p.Ala10Pro) variant of SPG7 (Q9UQ90)
A10P (p.Ala10Pro) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- 1000Genomes rs577872969
- TOPMed rs577872969
- gnomAD rs577872969
- Uncertain significance
- Hereditary spastic paraplegia 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 3.91
- PolyPhen-2 0.07
- SIFT 0.28
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available