V18I (p.Val18Ile) variant of SLC12A2 (P55011)
V18I (p.Val18Ile) in SLC12A2 (P55011) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- TOPMed rs1025704186
- gnomAD rs1025704186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- CADD 8.29
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available