E150K (p.Glu150Lys) variant of TYK2 (P29597)
E150K (p.Glu150Lys) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E150K (p.Glu150Lys) variant details
- p.Glu150Lys
- TOPMed rs1391138496
- gnomAD rs1391138496
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.47
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available