N115S (p.Asn115Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
N115S (p.Asn115Ser) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N115S (p.Asn115Ser) variant details
- p.Asn115Ser
- TOPMed rs1657203141
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.25
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available