I19M (p.Ile19Met) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I19M (p.Ile19Met) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- gnomAD rs1182088847
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.76
- MetaLR 0.99
- MetaSVM 1.02
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available