T14I (p.Thr14Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
T14I (p.Thr14Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- ExAC rs764901971
- gnomAD rs764901971
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.27
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.49
- CADD 13.20
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available