E8Q (p.Glu8Gln) variant of JAK1 (Tyrosine-protein kinase JAK1)
E8Q (p.Glu8Gln) 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 0.51 / 1. The record also includes population frequency data and structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- NCI-TCGA Cosmic COSV6109
- Ensembl rs2101268076
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.34
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available