N120D (p.Asn120Asp) variant of JAK1 (Tyrosine-protein kinase JAK1)
N120D (p.Asn120Asp) 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 0.29 / 1. The record also includes population frequency data and structural context.
N120D (p.Asn120Asp) variant details
- p.Asn120Asp
- TOPMed rs1557653616
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available