D99E (p.Asp99Glu) variant of JAK1 (Tyrosine-protein kinase JAK1)
D99E (p.Asp99Glu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D99E (p.Asp99Glu) variant details
- p.Asp99Glu
- rs1366562603
- ClinGen CA340678837
- ClinVar RCV001961044
- TOPMed rs1366562603
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.08
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available