F149S (p.Phe149Ser) variant of TYK2 (P29597)
F149S (p.Phe149Ser) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F149S (p.Phe149Ser) variant details
- p.Phe149Ser
- TOPMed rs1394628611
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available