F50I (p.Phe50Ile) variant of SLC12A1 (Q13621)
F50I (p.Phe50Ile) in SLC12A1 (Q13621) 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, published literature, and structural context.
F50I (p.Phe50Ile) variant details
- p.Phe50Ile
- gnomAD 15-48207867-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.37
- MetaLR 0.51
- MetaSVM -0.03
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available