N30S (p.Asn30Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
N30S (p.Asn30Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- gnomAD 9-5022076-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.09
- AlphaMissense 0.06
- MetaLR 0.19
- MetaSVM -0.98
- CADD 0.98
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available