Q20P (p.Gln20Pro) variant of TYK2 (P29597)
Q20P (p.Gln20Pro) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- rs753407156
- ClinGen CA9193892
- ClinVar RCV002573085
- ExAC rs753407156
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.27
- CADD 18.20
- PolyPhen-2 0.34
- SIFT 0.10
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available