G14E (p.Gly14Glu) variant of SLC12A2 (P55011)
G14E (p.Gly14Glu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- gnomAD 5-128083995-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available