A28S (p.Ala28Ser) variant of SLC12A2 (P55011)
A28S (p.Ala28Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 5-128084036-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.21
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available