V8M (p.Val8Met) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V8M (p.Val8Met) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- gnomAD rs1380854315
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.86
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available