K60* (p.Lys60Ter) variant of PAX8 (Paired box protein Pax-8)
K60* (p.Lys60Ter) in PAX8 (Paired box protein Pax-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K60* (p.Lys60Ter) variant details
- p.Lys60Ter
- gnomAD 2-113227119-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.61
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available