R12G (p.Arg12Gly) variant of SPG7 (Q9UQ90)
R12G (p.Arg12Gly) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- gnomAD 16-89508451-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available