T55K (p.Thr55Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
T55K (p.Thr55Lys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T55K (p.Thr55Lys) variant details
- p.Thr55Lys
- gnomAD 21-31663880-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 28.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available