G26C (p.Gly26Cys) variant of SPG7 (Q9UQ90)
G26C (p.Gly26Cys) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G26C (p.Gly26Cys) variant details
- p.Gly26Cys
- rs763721899
- ClinGen CA286519237
- ClinVar RCV001233635
- ClinVar RCV003482351
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary spastic paraplegia 7; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)