F56C (p.Phe56Cys) variant of SLC12A3 (P55017)
F56C (p.Phe56Cys) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F56C (p.Phe56Cys) variant details
- p.Phe56Cys
- gnomAD 16-56865402-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- MetaLR 0.93
- MetaSVM 1.08
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available