A2A (p.Ala2Ala) variant of SPG7 (Q9UQ90)
A2A (p.Ala2Ala) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1339691699
- gnomAD 16-89508423-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 8.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available