G11V (p.Gly11Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G11V (p.Gly11Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- rs1555836167
- Ensembl rs1555836167
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.40
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.34
- SIFT 0.01
- EVE 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available