R104C (p.Arg104Cys) variant of TYK2 (P29597)
R104C (p.Arg104Cys) in TYK2 (P29597) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- cosmic curated COSV10729
- 1000Genomes rs551925120
- ExAC rs551925120
- TOPMed rs551925120
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- CADD 24.00
- PolyPhen-2 0.62
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available