L143F (p.Leu143Phe) variant of TYK2 (P29597)
L143F (p.Leu143Phe) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L143F (p.Leu143Phe) variant details
- p.Leu143Phe
- TOPMed rs887883177
- gnomAD rs887883177
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.22
- CADD 15.70
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available