G13S (p.Gly13Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G13S (p.Gly13Ser) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- gnomAD 21-31659806-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.43
- MetaLR 0.97
- MetaSVM 1.23
- CADD 15.20
- PolyPhen-2 0.05
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available