H5Q (p.His5Gln) variant of TYK2 (P29597)
H5Q (p.His5Gln) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
H5Q (p.His5Gln) variant details
- p.His5Gln
- rs1218057452
- ClinGen CA404023258
- ClinVar RCV001772545
- gnomAD rs1218057452
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0704
- REVEL 0.07
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available