P146L (p.Pro146Leu) variant of TYK2 (P29597)
P146L (p.Pro146Leu) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TYK2-related disorder; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P146L (p.Pro146Leu) variant details
- p.Pro146Leu
- rs137904701
- ClinGen CA9193743
- ClinVar RCV000802854
- ClinVar RCV003413607
- Uncertain significance
- TYK2-related disorder; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.11
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (TYK2-related disorder; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available