R938Q (p.Arg938Gln) variant of JAK2 (Tyrosine-protein kinase JAK2)
R938Q (p.Arg938Gln) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Thrombocythemia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R938Q (p.Arg938Gln) variant details
- p.Arg938Gln
- rs1346944271
- NCI-TCGA Cosmic COSV6760
- TOPMed rs1346944271
- gnomAD rs1346944271
- Likely pathogenic
- Thrombocythemia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.92
- AlphaMissense 0.73
- MetaLR 0.76
- MetaSVM 0.63
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Thrombocythemia 3)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available