L4V (p.Leu4Val) variant of SPG7 (Q9UQ90)
L4V (p.Leu4Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- TOPMed rs2057958304
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available