E30G (p.Glu30Gly) variant of JAK1 (Tyrosine-protein kinase JAK1)
E30G (p.Glu30Gly) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- ExAC rs768272377
- gnomAD rs768272377
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.06
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available