R118Q (p.Arg118Gln) variant of TYK2 (P29597)
R118Q (p.Arg118Gln) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Immunodeficiency 35; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R118Q (p.Arg118Gln) variant details
- p.Arg118Gln
- rs369530676
- ClinGen CA9193760
- cosmic curated COSV10636
- ClinVar RCV000761987
- Conflicting interpretations
- Inborn genetic diseases; Immunodeficiency 35; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Immunodeficiency 35; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)