T16A (p.Thr16Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
T16A (p.Thr16Ala) 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 and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- gnomAD rs1422678517
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.20
- AlphaMissense 0.06
- MetaLR 0.19
- MetaSVM -0.91
- CADD 0.01
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available