Y54F (p.Tyr54Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y54F (p.Tyr54Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y54F (p.Tyr54Phe) variant details
- p.Tyr54Phe
- Ensembl rs1325660414
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.29
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.97
- CADD 14.70
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available