S30W (p.Ser30Trp) variant of SPG7 (Q9UQ90)
S30W (p.Ser30Trp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S30W (p.Ser30Trp) variant details
- p.Ser30Trp
- gnomAD 16-89507697-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0984
- CADD 2.50
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available