S12R (p.Ser12Arg) variant of TYK2 (P29597)
S12R (p.Ser12Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- rs769741671
- ClinGen CA9193899
- ClinVar RCV001064932
- ExAC rs769741671
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.24
- CADD 9.37
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available