V27E (p.Val27Glu) variant of JAK1 (Tyrosine-protein kinase JAK1)
V27E (p.Val27Glu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V27E (p.Val27Glu) variant details
- p.Val27Glu
- Ensembl rs2101266858
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.32
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available