R118W (p.Arg118Trp) variant of TYK2 (P29597)
R118W (p.Arg118Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R118W (p.Arg118Trp) variant details
- p.Arg118Trp
- rs138742402
- ClinGen CA9193761
- ClinVar RCV003004952
- ClinVar RCV003898685
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- CADD 25.40
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available