V88A (p.Val88Ala) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V88A (p.Val88Ala) 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 Amyotrophic lateral sclerosis type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
V88A (p.Val88Ala) variant details
- p.Val88Ala
- rs1339283341
- ClinGen CA410037421
- ClinVar RCV001064307
- ClinVar RCV003132202
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 1; not provided)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of… (PMID 14506936)
- Cited in: Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. (PMID 27604643)