N11S (p.Asn11Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
N11S (p.Asn11Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- rs1167926810
- ClinGen CA340714060
- ClinVar RCV002612703
- ClinVar RCV002612704
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)