S43L (p.Ser43Leu) variant of JAK1 (Tyrosine-protein kinase JAK1)
S43L (p.Ser43Leu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, 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 0.32 / 1. The record also includes population frequency data and structural context.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- rs758557529
- ClinGen CA893239
- ClinVar RCV001903957
- ExAC rs758557529
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.13
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available