T3M (p.Thr3Met) variant of SOD1 (Superoxide dismutase [Cu-Zn])
T3M (p.Thr3Met) 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 SOD1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T3M (p.Thr3Met) variant details
- p.Thr3Met
- NCI-TCGA Cosmic COSV9953
- cosmic curated COSV99532
- TOPMed rs1601153292
- Uncertain significance
- SOD1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.38
- MetaLR 0.94
- MetaSVM 1.48
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (SOD1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available