A12G (p.Ala12Gly) variant of SLC12A2 (P55011)
A12G (p.Ala12Gly) 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 and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- TOPMed rs895786562
- gnomAD rs895786562
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.21
- CADD 10.90
- PolyPhen-2 0.02
- SIFT 0.14
- Population evidence available
- Structural context available