L143P (p.Leu143Pro) variant of TYK2 (P29597)
L143P (p.Leu143Pro) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L143P (p.Leu143Pro) variant details
- p.Leu143Pro
- ExAC rs761545778
- TOPMed rs761545778
- gnomAD rs761545778
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.69
- CADD 29.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available