A5A (p.Ala5Ala) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A5A (p.Ala5Ala) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs199766524
- gnomAD 21-31659784-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.60
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available