L11P (p.Leu11Pro) variant of SPG7 (Q9UQ90)
L11P (p.Leu11Pro) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs943187212
- ClinGen CA397415860
- ClinVar RCV001059473
- TOPMed rs943187212
- Uncertain significance
- Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)