D53A (p.Asp53Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
D53A (p.Asp53Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
D53A (p.Asp53Ala) variant details
- p.Asp53Ala
- NCI-TCGA Cosmic COSV6757
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.15
- MetaSVM -0.95
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available