Y45F (p.Tyr45Phe) variant of SLC12A1 (Q13621)
Y45F (p.Tyr45Phe) 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.
Y45F (p.Tyr45Phe) variant details
- p.Tyr45Phe
- gnomAD 15-48207853-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.38
- MetaLR 0.53
- MetaSVM 0.05
- CADD 21.20
- PolyPhen-2 0.20
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available