S40R (p.Ser40Arg) variant of SLC12A3 (P55017)
S40R (p.Ser40Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S40R (p.Ser40Arg) variant details
- p.Ser40Arg
- gnomAD 16-56865355-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- MetaLR 0.32
- MetaSVM -0.57
- CADD 18.80
- PolyPhen-2 0.02
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available