V32G (p.Val32Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V32G (p.Val32Gly) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V32G (p.Val32Gly) variant details
- p.Val32Gly
- TOPMed rs1428716759
- gnomAD rs1428716759
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.78
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 1.05
- CADD 28.20
- PolyPhen-2 0.97
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available