S9W (p.Ser9Trp) variant of SLC12A2 (P55011)
S9W (p.Ser9Trp) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S9W (p.Ser9Trp) variant details
- p.Ser9Trp
- gnomAD 5-128083979-TCCTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available