A10S (p.Ala10Ser) variant of SPG7 (Q9UQ90)
A10S (p.Ala10Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- rs577872969
- ClinGen CA397415853
- ClinVar RCV001972989
- 1000Genomes rs577872969
- Uncertain significance
- Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)