R104H (p.Arg104His) variant of TYK2 (P29597)
R104H (p.Arg104His) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R104H (p.Arg104His) variant details
- p.Arg104His
- rs774448680
- ClinGen CA9193791
- cosmic curated COSV53386
- ClinVar RCV000522191
- Uncertain significance
- not provided; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.81
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available