S9P (p.Ser9Pro) variant of SLC12A2 (P55011)
S9P (p.Ser9Pro) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- gnomAD 5-128083975-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available