V32L (p.Val32Leu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V32L (p.Val32Leu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- gnomAD 21-31663811-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.35
- MetaLR 0.94
- MetaSVM 0.96
- CADD 9.87
- PolyPhen-2 0.02
- SIFT 0.35
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available