S85R (p.Ser85Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
S85R (p.Ser85Arg) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S85R (p.Ser85Arg) variant details
- p.Ser85Arg
- Ensembl rs2147700029
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available