L48P (p.Leu48Pro) variant of JAK1 (Tyrosine-protein kinase JAK1)
L48P (p.Leu48Pro) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The record also includes structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- ExAC rs779004397
- gnomAD rs779004397
- Missense
- Structural context available