I19V (p.Ile19Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
I19V (p.Ile19Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I19V (p.Ile19Val) variant details
- p.Ile19Val
- rs150159583
- ClinGen CA4971475
- ClinVar RCV003728937
- ClinVar RCV004985562
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.21
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.75
- CADD 0.00
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)