L73R (p.Leu73Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
L73R (p.Leu73Arg) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L73R (p.Leu73Arg) variant details
- p.Leu73Arg
- rs1064793156
- ClinGen CA16620809
- ClinVar RCV000481431
- TOPMed rs1064793156
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.83
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available