I35K (p.Ile35Lys) variant of JAK2 (Tyrosine-protein kinase JAK2)
I35K (p.Ile35Lys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I35K (p.Ile35Lys) variant details
- p.Ile35Lys
- gnomAD 9-5022091-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.14
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.95
- CADD 8.30
- PolyPhen-2 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available