D12D (p.Asp12Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
D12D (p.Asp12Asp) in SOD1 (Superoxide dismutase [Cu-Zn]) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D12D (p.Asp12Asp) variant details
- p.Asp12Asp
- rs2123428025
- gnomAD 21-31659805-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available