N22T (p.Asn22Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
N22T (p.Asn22Thr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N22T (p.Asn22Thr) variant details
- p.Asn22Thr
- ExAC rs780253547
- gnomAD rs780253547
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.36
- AlphaMissense 0.19
- MetaLR 0.31
- MetaSVM -0.56
- CADD 22.10
- PolyPhen-2 0.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available