K60E (p.Lys60Glu) variant of PAX8 (Paired box protein Pax-8)
K60E (p.Lys60Glu) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K60E (p.Lys60Glu) variant details
- p.Lys60Glu
- gnomAD 2-113227113-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 7.55
- Population evidence available
- Structural context available
- Literature evidence available