G27D (p.Gly27Asp) variant of TYK2 (P29597)
G27D (p.Gly27Asp) 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 0.42 / 1. The record also includes population frequency data and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs753473919
- ClinGen CA305220275
- ClinVar RCV000706784
- Ensembl rs753473919
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available