A10A (p.Ala10Ala) variant of SPG7 (Q9UQ90)
A10A (p.Ala10Ala) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A10A (p.Ala10Ala) variant details
- p.Ala10Ala
- rs763741926
- gnomAD 16-89507734-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 7.59
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available