F51C (p.Phe51Cys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F51C (p.Phe51Cys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F51C (p.Phe51Cys) variant details
- p.Phe51Cys
- ExAC rs759149157
- gnomAD rs759149157
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available