K100E (p.Lys100Glu) variant of JAK1 (Tyrosine-protein kinase JAK1)
K100E (p.Lys100Glu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K100E (p.Lys100Glu) variant details
- p.Lys100Glu
- ExAC rs758043101
- gnomAD rs758043101
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available