P84R (p.Pro84Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
P84R (p.Pro84Arg) 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 0.71 / 1. The record also includes population frequency data and structural context.
P84R (p.Pro84Arg) variant details
- p.Pro84Arg
- cosmic curated COSV10974
- ExAC rs201067961
- TOPMed rs201067961
- gnomAD rs201067961
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.73
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0024)
- Structural context available