Q20R (p.Gln20Arg) variant of TYK2 (P29597)
Q20R (p.Gln20Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- ExAC rs753407156
- TOPMed rs753407156
- gnomAD rs753407156
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available