V63I (p.Val63Ile) variant of JAK2 (Tyrosine-protein kinase JAK2)
V63I (p.Val63Ile) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V63I (p.Val63Ile) variant details
- p.Val63Ile
- ExAC rs758479739
- gnomAD rs758479739
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.11
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.87
- CADD 17.10
- PolyPhen-2 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available