N76S (p.Asn76Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
N76S (p.Asn76Ser) 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 0.49 / 1. The record also includes population frequency data and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- rs763612181
- ClinGen CA893211
- ClinVar RCV002584710
- ExAC rs763612181
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.39
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available