S48L (p.Ser48Leu) variant of TSLP (Thymic stromal lymphopoietin)
S48L (p.Ser48Leu) in TSLP (Thymic stromal lymphopoietin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- rs1752352319
- gnomAD 5-111072029-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available