V32A (p.Val32Ala) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V32A (p.Val32Ala) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Amyotrophic lateral sclerosis type 1; Spastic tetraplegia and axia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- rs1428716759
- ClinGen CA410036578
- ClinVar RCV001095392
- ClinVar RCV001196130
- Conflicting interpretations
- not provided; Amyotrophic lateral sclerosis type 1; Spastic tetraplegia and axia
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.47
- ClinVar: Conflicting classifications of pathogenicity (not provided; Amyotrophic lateral sclerosis type 1; Spastic tetr)
- EBI: Likely pathogenic
- UniProt: Likely 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)