F51L (p.Phe51Leu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F51L (p.Phe51Leu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- gnomAD 21-31663868-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available