N120S (p.Asn120Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
N120S (p.Asn120Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
N120S (p.Asn120Ser) variant details
- p.Asn120Ser
- rs1420309164
- ClinGen CA340677919
- ClinVar RCV003691137
- gnomAD rs1420309164
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.03
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available