G17V (p.Gly17Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G17V (p.Gly17Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- gnomAD 21-31659819-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.90
- MetaLR 1.00
- MetaSVM 1.18
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available