V36L (p.Val36Leu) variant of JAK1 (Tyrosine-protein kinase JAK1)
V36L (p.Val36Leu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- TOPMed rs1570701650
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.12
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available