L145F (p.Leu145Phe) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L145F (p.Leu145Phe) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 population frequency data, published literature, and structural context.
L145F (p.Leu145Phe) variant details
- p.Leu145Phe
- rs1482760341
- ClinGen CA410037798
- ClinVar RCV001095400
- TOPMed rs1482760341
- Pathogenic
- Amyotrophic lateral sclerosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.52
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.28
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Population evidence available
- Structural context available
- Cited in: SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization. (PMID 18301754)
- Cited in: Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral… (PMID 7887412)