p.Val3dup variant of SPG7 (Q9UQ90)
p.Val3dup in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val3dup variant details
- gnomAD 16-89508423-C-CGT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 17.50
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available