L27M (p.Leu27Met) variant of SLC12A2 (P55011)
L27M (p.Leu27Met) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 5-128084033-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.22
- CADD 8.62
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available