L4P (p.Leu4Pro) variant of SPG7 (Q9UQ90)
L4P (p.Leu4Pro) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs2057958357
- ClinGen CA397415827
- ClinVar RCV003617759
- ClinVar RCV005281458
- Uncertain significance
- Hereditary spastic paraplegia 7; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)