N22S (p.Asn22Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
N22S (p.Asn22Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- ExAC rs780253547
- gnomAD rs780253547
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.34
- AlphaMissense 0.14
- MetaLR 0.28
- MetaSVM -0.62
- CADD 20.90
- PolyPhen-2 0.76
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available