L27Q (p.Leu27Gln) variant of SLC12A2 (P55011)
L27Q (p.Leu27Gln) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- gnomAD 5-128084034-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.22
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available