L4Q (p.Leu4Gln) variant of SPG7 (Q9UQ90)
L4Q (p.Leu4Gln) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L4Q (p.Leu4Gln) variant details
- p.Leu4Gln
- gnomAD 16-89508428-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 10.20
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available