A56V (p.Ala56Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A56V (p.Ala56Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- TOPMed rs2049570429
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.41
- MetaLR 0.97
- MetaSVM 1.31
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available