L8P (p.Leu8Pro) variant of SPG7 (Q9UQ90)
L8P (p.Leu8Pro) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD 16-89508440-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available