M1K (p.Met1Lys) variant of SPG7 (Q9UQ90)
M1K (p.Met1Lys) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1332265538
- ClinGen CA397415810
- ClinVar RCV001382565
- Pathogenic/Likely 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/Likely pathogenic (Hereditary spastic paraplegia 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)