S48S (p.Ser48Ser) variant of SLC12A3 (P55017)
S48S (p.Ser48Ser) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- rs1964327643
- gnomAD 16-56865379-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 10.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available