N84T (p.Asn84Thr) variant of JAK1 (Tyrosine-protein kinase JAK1)
N84T (p.Asn84Thr) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N84T (p.Asn84Thr) variant details
- p.Asn84Thr
- Ensembl rs998744051
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0875
- REVEL 0.05
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available