N28K (p.Asn28Lys) variant of JAK1 (Tyrosine-protein kinase JAK1)
N28K (p.Asn28Lys) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
N28K (p.Asn28Lys) variant details
- p.Asn28Lys
- TOPMed rs1349640065
- Missense
- Variant Prioritization Score for Impact Estimate 0.0655
- REVEL 0.06
- CADD 0.19
- PolyPhen-2 0.03
- SIFT 0.89
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available