K33T (p.Lys33Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
K33T (p.Lys33Thr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K33T (p.Lys33Thr) variant details
- p.Lys33Thr
- TOPMed rs538474116
- gnomAD rs538474116
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.19
- AlphaMissense 0.12
- MetaLR 0.25
- MetaSVM -0.82
- CADD 20.80
- PolyPhen-2 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available