A96T (p.Ala96Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A96T (p.Ala96Thr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A96T (p.Ala96Thr) variant details
- p.Ala96Thr
- rs1568810686
- ClinGen CA410037465
- ClinVar RCV002624691
- ClinVar RCV004818241
- Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.78
- MetaLR 0.99
- MetaSVM 1.04
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely pathogenic (in ALS1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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)