M1V (p.Met1Val) variant of SPG7 (Q9UQ90)
M1V (p.Met1Val) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SPG7-related disorder; not provided; Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs794726906
- ClinGen CA274907
- ClinVar RCV000173302
- ClinVar RCV001852108
- Pathogenic/Likely pathogenic
- SPG7-related disorder; not provided; Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MetaLR 0.88
- MetaSVM 0.86
- PolyPhen-2 0.71
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic/Likely pathogenic (SPG7-related disorder; not provided; Hereditary spastic parapleg)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)