L783F (p.Leu783Phe) variant of JAK1 (Tyrosine-protein kinase JAK1)
L783F (p.Leu783Phe) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute megakaryoblastic leukemia in down syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L783F (p.Leu783Phe) variant details
- p.Leu783Phe
- rs1655079234
- ClinGen CA340666631
- ClinVar RCV001293764
- Ensembl rs1655079234
- Likely pathogenic
- Acute megakaryoblastic leukemia in down syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.76
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Likely pathogenic (Acute megakaryoblastic leukemia in down syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available