Q16E (p.Gln16Glu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
Q16E (p.Gln16Glu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q16E (p.Gln16Glu) variant details
- p.Gln16Glu
- gnomAD rs2049531483
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.31
- MetaLR 0.93
- MetaSVM 0.88
- CADD 7.87
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available