G16R (p.Gly16Arg) variant of SPG7 (Q9UQ90)
G16R (p.Gly16Arg) 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.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- gnomAD 16-89508463-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 14.70
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available