T138I (p.Thr138Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
T138I (p.Thr138Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T138I (p.Thr138Ile) variant details
- p.Thr138Ile
- rs1568811454
- ClinGen CA410037753
- ClinVar RCV001509076
- ClinVar RCV001882562
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.87
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)