A7E (p.Ala7Glu) variant of SLC12A2 (P55011)
A7E (p.Ala7Glu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- gnomAD 5-128083974-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.27
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available