Q16H (p.Gln16His) variant of SOD1 (Superoxide dismutase [Cu-Zn])
Q16H (p.Gln16His) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- gnomAD 21-31659817-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.27
- MetaLR 0.92
- MetaSVM 0.59
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available