E131K (p.Glu131Lys) variant of TYK2 (P29597)
E131K (p.Glu131Lys) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E131K (p.Glu131Lys) variant details
- p.Glu131Lys
- ExAC rs754709072
- TOPMed rs754709072
- gnomAD rs754709072
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- CADD 7.28
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available