G40R (p.Gly40Arg) variant of TYK2 (P29597)
G40R (p.Gly40Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- rs763286803
- ExAC rs763286803
- TOPMed rs763286803
- gnomAD rs763286803
- Uncertain significance
- Immunodeficiency 35; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.05
- CADD 6.38
- PolyPhen-2 0.06
- SIFT 0.33
- ClinVar: Uncertain significance (Immunodeficiency 35; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available