Q16R (p.Gln16Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
Q16R (p.Gln16Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- TOPMed rs200016533
- gnomAD rs200016533
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.28
- MetaLR 0.95
- MetaSVM 1.10
- CADD 16.50
- PolyPhen-2 0.10
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available