N122S (p.Asn122Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
N122S (p.Asn122Ser) 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 0.07 / 1. The record also includes population frequency data and structural context.
N122S (p.Asn122Ser) variant details
- p.Asn122Ser
- 1000Genomes rs199914339
- ExAC rs199914339
- TOPMed rs199914339
- gnomAD rs199914339
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0689
- REVEL 0.03
- CADD 7.32
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available