I69T (p.Ile69Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
I69T (p.Ile69Thr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- gnomAD rs1441596935
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.26
- AlphaMissense 0.12
- MetaLR 0.33
- MetaSVM -0.59
- CADD 23.30
- PolyPhen-2 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available