G17A (p.Gly17Ala) variant of SLC12A2 (P55011)
G17A (p.Gly17Ala) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- gnomAD 5-128084004-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.15
- CADD 6.80
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available