M1R (p.Met1Arg) variant of SPG7 (Q9UQ90)
M1R (p.Met1Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1332265538
- ClinGen CA397415808
- ClinVar RCV003388959
- Pathogenic
- Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic (Hereditary spastic paraplegia 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy. (PMID 35243150)
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)