T55I (p.Thr55Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
T55I (p.Thr55Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- gnomAD 21-31663881-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.93
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available