R4C (p.Arg4Cys) variant of TYK2 (P29597)
R4C (p.Arg4Cys) 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; not provided; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- rs368801193
- ClinGen CA9193907
- ClinVar RCV001241854
- ClinVar RCV004034695
- Conflicting interpretations
- Inborn genetic diseases; not provided; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.29
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Immunodeficiency 35)
- EBI: Likely benign (in dbSNP:rs12720343)
- UniProt: Likely benign (in dbSNP:rs12720343)
- Most common in the South Asian population (allele frequency 0.00062)
- 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)