L15M (p.Leu15Met) variant of SLC12A2 (P55011)
L15M (p.Leu15Met) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- gnomAD 5-128083997-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.21
- CADD 8.72
- PolyPhen-2 0.06
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available