S61R (p.Ser61Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
S61R (p.Ser61Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
S61R (p.Ser61Arg) variant details
- p.Ser61Arg
- 1000Genomes rs200269517
- ExAC rs200269517
- TOPMed rs200269517
- gnomAD rs200269517
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.36
- CADD 17.80
- PolyPhen-2 0.60
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available