S30N (p.Ser30Asn) variant of SPG7 (Q9UQ90)
S30N (p.Ser30Asn) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SPG7-related disorder; Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- rs863224215
- ClinGen CA323832
- ClinVar RCV000389351
- ClinVar RCV003417714
- Uncertain significance
- SPG7-related disorder; Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 7.14
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (SPG7-related disorder; Hereditary spastic paraplegia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)