I36F (p.Ile36Phe) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I36F (p.Ile36Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
I36F (p.Ile36Phe) variant details
- p.Ile36Phe
- rs1057524474
- ClinGen CA16608530
- ClinVar RCV000435550
- ClinVar RCV002525490
- Uncertain significance
- Amyotrophic lateral sclerosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.61
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.24
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1; not provided)
- 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)