G39S (p.Gly39Ser) variant of TYK2 (P29597)
G39S (p.Gly39Ser) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- rs201283990
- ClinGen CA9193886
- cosmic curated COSV53386
- ClinVar RCV001459985
- Likely benign
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.12
- CADD 11.70
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Likely benign (Immunodeficiency 35)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- Structural context available