S60I (p.Ser60Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
S60I (p.Ser60Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S60I (p.Ser60Ile) variant details
- p.Ser60Ile
- rs1413388444
- ClinGen CA410037222
- ClinVar RCV002224612
- TOPMed rs1413388444
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.94
- MetaLR 1.00
- MetaSVM 0.90
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available