L51Q (p.Leu51Gln) variant of TYK2 (P29597)
L51Q (p.Leu51Gln) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L51Q (p.Leu51Gln) variant details
- p.Leu51Gln
- TOPMed rs931666925
- gnomAD rs931666925
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.41
- CADD 24.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available