L7V (p.Leu7Val) variant of SPG7 (Q9UQ90)
L7V (p.Leu7Val) in SPG7 (Q9UQ90) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- TOPMed rs1188029212
- gnomAD rs1188029212
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 6.43
- PolyPhen-2 0.01
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available