L15Q (p.Leu15Gln) variant of SLC12A2 (P55011)
L15Q (p.Leu15Gln) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- gnomAD 5-128083998-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.34
- CADD 8.91
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available