p.Gly18 Pro27del variant of SPG7 (Q9UQ90)
p.Gly18 Pro27del in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly18 Pro27del variant details
- gnomAD 16-89508454-CGGGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 13.70
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available