K60K (p.Lys60Lys) variant of PAX8 (Paired box protein Pax-8)
K60K (p.Lys60Lys) in PAX8 (Paired box protein Pax-8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K60K (p.Lys60Lys) variant details
- p.Lys60Lys
- gnomAD 2-113227111-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 7.98
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available