S43G (p.Ser43Gly) variant of SLC12A3 (P55017)
S43G (p.Ser43Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- gnomAD 16-56865362-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- MetaLR 0.32
- MetaSVM -0.72
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available