I743T (p.Ile743Thr) variant of SPG7 (Q9UQ90)
I743T (p.Ile743Thr) 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; Spastic ataxia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
I743T (p.Ile743Thr) variant details
- p.Ile743Thr
- rs752623413
- ClinGen CA323349
- ClinVar RCV000198819
- ClinVar RCV000500664
- Pathogenic/Likely pathogenic
- SPG7-related disorder; Spastic ataxia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SPG7-related disorder; Spastic ataxia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)