T16P (p.Thr16Pro) variant of JAK2 (Tyrosine-protein kinase JAK2)
T16P (p.Thr16Pro) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T16P (p.Thr16Pro) variant details
- p.Thr16Pro
- gnomAD 9-5022033-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.28
- AlphaMissense 0.06
- MetaLR 0.22
- MetaSVM -0.95
- CADD 0.24
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available