S43R (p.Ser43Arg) variant of SLC12A3 (P55017)
S43R (p.Ser43Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- gnomAD 16-56865364-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- MetaLR 0.29
- MetaSVM -0.47
- CADD 18.00
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available