D121N (p.Asp121Asn) variant of JAK1 (Tyrosine-protein kinase JAK1)
D121N (p.Asp121Asn) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D121N (p.Asp121Asn) variant details
- p.Asp121Asn
- TOPMed rs1180823763
- gnomAD rs1180823763
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.09
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available