R9C (p.Arg9Cys) variant of SPG7 (Q9UQ90)
R9C (p.Arg9Cys) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary spastic paraplegia 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs1368314619
- ClinGen CA397415849
- ClinVar RCV001069528
- ClinVar RCV002511031
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 22.60
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary spastic paraplegia 7; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)