A28P (p.Ala28Pro) variant of SLC12A2 (P55011)
A28P (p.Ala28Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- gnomAD 5-128084036-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.20
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available