R124C (p.Arg124Cys) variant of TYK2 (P29597)
R124C (p.Arg124Cys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R124C (p.Arg124Cys) variant details
- p.Arg124Cys
- rs757581005
- ClinGen CA9193755
- ClinVar RCV001122034
- ClinVar RCV003163276
- Uncertain significance
- Immunodeficiency 35; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 35; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)