S50L (p.Ser50Leu) variant of TYK2 (P29597)
S50L (p.Ser50Leu) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S50L (p.Ser50Leu) variant details
- p.Ser50Leu
- rs747484809
- ClinGen CA9193878
- ClinVar RCV001238943
- ExAC rs747484809
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.09
- CADD 18.80
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available