V48A (p.Val48Ala) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V48A (p.Val48Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
V48A (p.Val48Ala) variant details
- p.Val48Ala
- rs1568809169
- ClinGen CA410036743
- ClinVar RCV001318269
- Ensembl rs1568809169
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.84
- PolyPhen-2 0.54
- SIFT 0.01
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (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)