G17E (p.Gly17Glu) variant of SLC12A2 (P55011)
G17E (p.Gly17Glu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD 5-128084004-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.20
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available