I19T (p.Ile19Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I19T (p.Ile19Thr) 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 Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- rs1601153438
- ClinGen CA410036046
- ClinVar RCV000808197
- Ensembl rs1601153438
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.84
- PolyPhen-2 0.71
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients… (PMID 16324086)
- Cited in: Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with… (PMID 17653917)