E150A (p.Glu150Ala) variant of TYK2 (P29597)
E150A (p.Glu150Ala) in TYK2 (P29597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E150A (p.Glu150Ala) variant details
- p.Glu150Ala
- ESP rs200718118
- ExAC rs200718118
- TOPMed rs200718118
- gnomAD rs200718118
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.40
- CADD 28.80
- PolyPhen-2 0.96
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available