P42H (p.Pro42His) variant of TYK2 (P29597)
P42H (p.Pro42His) in TYK2 (P29597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P42H (p.Pro42His) variant details
- p.Pro42His
- 1000Genomes rs761736148
- ExAC rs761736148
- TOPMed rs761736148
- gnomAD rs761736148
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.08
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available