S33T (p.Ser33Thr) variant of SLC12A1 (Q13621)
S33T (p.Ser33Thr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S33T (p.Ser33Thr) variant details
- p.Ser33Thr
- gnomAD 15-48207817-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.04
- CADD 3.04
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available