R13G (p.Arg13Gly) variant of SPG7 (Q9UQ90)
R13G (p.Arg13Gly) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spastic paraplegia 7; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- rs923197967
- ClinGen CA286519194
- ClinVar RCV002139937
- ClinVar RCV005742417
- Conflicting interpretations
- Hereditary spastic paraplegia 7; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 7; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- 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)