V15A (p.Val15Ala) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V15A (p.Val15Ala) 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 Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- TOPMed rs1202989817
- gnomAD rs1202989817
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.71
- AlphaMissense 0.56
- MetaLR 1.00
- MetaSVM 0.91
- CADD 23.10
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely pathogenic (in ALS1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available