L11V (p.Leu11Val) variant of SPG7 (Q9UQ90)
L11V (p.Leu11Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- TOPMed rs1206986382
- gnomAD rs1206986382
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available