E8G (p.Glu8Gly) variant of JAK1 (Tyrosine-protein kinase JAK1)
E8G (p.Glu8Gly) 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 0.48 / 1. The record also includes population frequency data and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- NCI-TCGA Cosmic COSV6109
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.38
- CADD 25.80
- PolyPhen-2 0.08
- 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