L5V (p.Leu5Val) variant of SPG7 (Q9UQ90)
L5V (p.Leu5Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- gnomAD 16-89508430-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0972
- CADD 6.24
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available