N99K (p.Asn99Lys) variant of PAX8 (Paired box protein Pax-8)
N99K (p.Asn99Lys) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
N99K (p.Asn99Lys) variant details
- p.Asn99Lys
- ExAC rs762019177
- TOPMed rs762019177
- gnomAD rs762019177
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.73
- CADD 24.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available