D12G (p.Asp12Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
D12G (p.Asp12Gly) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- gnomAD 21-31659804-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.48
- MetaLR 0.97
- MetaSVM 1.15
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available