T16S (p.Thr16Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
T16S (p.Thr16Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- gnomAD 9-5022033-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.20
- AlphaMissense 0.07
- MetaLR 0.17
- MetaSVM -0.98
- CADD 0.01
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available