T96N (p.Thr96Asn) variant of JAK1 (Tyrosine-protein kinase JAK1)
T96N (p.Thr96Asn) in JAK1 (Tyrosine-protein kinase JAK1) 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.
T96N (p.Thr96Asn) variant details
- p.Thr96Asn
- TOPMed rs1265709653
- gnomAD rs1265709653
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -0.98
- CADD 19.10
- PolyPhen-2 0.34
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available