L77F (p.Leu77Phe) variant of JAK1 (Tyrosine-protein kinase JAK1)
L77F (p.Leu77Phe) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L77F (p.Leu77Phe) variant details
- p.Leu77Phe
- NCI-TCGA TCGA novel
- Ensembl rs1644729696
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.78
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available