L51P (p.Leu51Pro) variant of TYK2 (P29597)
L51P (p.Leu51Pro) 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.
L51P (p.Leu51Pro) variant details
- p.Leu51Pro
- TOPMed rs931666925
- gnomAD rs931666925
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.43
- CADD 22.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available