A28G (p.Ala28Gly) variant of SLC12A2 (P55011)
A28G (p.Ala28Gly) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- gnomAD 5-128084037-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.18
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available