S9T (p.Ser9Thr) variant of SLC12A2 (P55011)
S9T (p.Ser9Thr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- gnomAD 5-128083979-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.26
- CADD 17.80
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available