G16C (p.Gly16Cys) variant of SPG7 (Q9UQ90)
G16C (p.Gly16Cys) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD 16-89508463-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 16.00
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available