I93F (p.Ile93Phe) variant of TYK2 (P29597)
I93F (p.Ile93Phe) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I93F (p.Ile93Phe) variant details
- p.Ile93Phe
- rs1434718123
- ClinGen CA404020055
- ClinVar RCV001323474
- ClinVar RCV003166889
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.25
- CADD 16.90
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)