S85N (p.Ser85Asn) variant of JAK3 (Tyrosine-protein kinase JAK3)
S85N (p.Ser85Asn) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S85N (p.Ser85Asn) variant details
- p.Ser85Asn
- TOPMed rs1299325240
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.15
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available