W6G (p.Trp6Gly) variant of TYK2 (P29597)
W6G (p.Trp6Gly) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
W6G (p.Trp6Gly) variant details
- p.Trp6Gly
- rs533026972
- ClinGen CA404023254
- ClinVar RCV002756609
- ClinVar RCV003274026
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.14
- CADD 5.88
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-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)