K10Q (p.Lys10Gln) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K10Q (p.Lys10Gln) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K10Q (p.Lys10Gln) variant details
- p.Lys10Gln
- TOPMed rs1236713490
- gnomAD rs1236713490
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.61
- MetaLR 0.96
- MetaSVM 1.09
- CADD 22.70
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available