L15T (p.Leu15Thr) variant of SLC12A2 (P55011)
L15T (p.Leu15Thr) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L15T (p.Leu15Thr) variant details
- p.Leu15Thr
- gnomAD 5-128083988-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available