F46V (p.Phe46Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F46V (p.Phe46Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F46V (p.Phe46Val) variant details
- p.Phe46Val
- gnomAD 21-31663853-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available