S9F (p.Ser9Phe) variant of SLC12A2 (P55011)
S9F (p.Ser9Phe) in SLC12A2 (P55011) 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.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- gnomAD 5-128083980-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.32
- CADD 21.80
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available