G13D (p.Gly13Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G13D (p.Gly13Asp) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- TOPMed rs1379845624
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.51
- MetaLR 0.98
- MetaSVM 1.16
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available