L7M (p.Leu7Met) variant of SPG7 (Q9UQ90)
L7M (p.Leu7Met) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- rs1188029212
- ClinGen CA397415840
- ClinVar RCV001090548
- TOPMed rs1188029212
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 17.00
- PolyPhen-2 0.54
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available