I19del (p.Ile19del) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I19del (p.Ile19del) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I19del (p.Ile19del) variant details
- gnomAD 21-31659819-GCAT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 19.50
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available