T8R (p.Thr8Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
T8R (p.Thr8Arg) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- 1000Genomes rs145500023
- ESP rs145500023
- ExAC rs145500023
- TOPMed rs145500023
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available