A96V (p.Ala96Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A96V (p.Ala96Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A96V (p.Ala96Val) variant details
- p.Ala96Val
- rs1568810690
- ClinGen CA410037470
- ClinVar RCV001971902
- Ensembl rs1568810690
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.84
- AlphaMissense 0.34
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Variant of uncertain significance (in ALS1)
- UniProt: Uncertain significance (in ALS1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)