P42L (p.Pro42Leu) variant of TYK2 (P29597)
P42L (p.Pro42Leu) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. 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.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs761736148
- ClinGen CA9193881
- ClinVar RCV001931740
- 1000Genomes rs761736148
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available